Rosalinde Snijders

Academisch Medisch Centrum Universiteit van Amsterdam | AMC · Department of Obstetrics & Gynecology

Introduction: Ongoing developments in prenatal anomaly screening necessitate continuous updating of counsellors' knowledge. We explored the effect of a refresher counselling course on participants' knowledge of prenatal screening. Methods: We investigated the association between knowledge and counsellors' working experience. Also, the associatio...

Introduction: Mid-trimester uterine artery resistance measured with Doppler sonography is predictive for iatrogenic preterm birth. In view of the emerging association between hypertensive disease in pregnancy and spontaneous preterm birth, we hypothesized that uterine artery resistance could also predict spontaneous preterm birth. Material and me...

Objective: This study assessed the percentage and type of congenital anomalies diagnosed at first-trimester ultrasound (US) scan in a primary care setting without following a standardized protocol for fetal anatomical assessment. Materials and methods: US scans performed between 11+0 and 13+6 weeks of gestation in pregnancies with estimated date...

Objective: The aim of our study was to assess charts proposed for international use in the Intergrowth-21st Project. Methods: Ultrasound data were collected from 43,923 healthy singleton pregnancies examined at 18-23 weeks of gestation in the Netherlands. Fetal measurements were converted into Z-scores using previous and current Dutch reference...

Objective: To examine prevalence, time of diagnosis and outcome of fetuses with an exomphalos or gastroschisis, diagnosed since the introduction of a national prenatal screening program in 2007. Methods: A prospective cohort study was undertaken in two fetal medicine units in the Netherlands. Cases were included if the estimated due date was bet...

Objective: To examine the accuracy and timing of diagnosis of fetal cleft lip with or without cleft palate (CL ± P) in the years following the introduction of a national screening program, and to assess the completeness and accuracy of information in The Netherlands Perinatal Registry. Methods: A list was obtained of cases with a prenatal or pos...

To assess the gestational age at detection and prevalence of anencephaly in the North of the Netherlands over a five year period. A case-list of all cases of anencephaly from two Fetal Medicine Units was compiled. Cases were included if the estimated due date was between August 1, 2008 and July 31, 2013. Overall prevalence of anencephaly was 5.4 pe...

Objectives To evaluate in a population-based cohort the effect of the introduction of the 20-week ultrasound scan (20wkUS) in 2007 on the time of diagnosis, pregnancy outcome, and total and live-born prevalence of cases with selected CHDs in the Netherlands. Methods We included children and foetuses diagnosed with selected severe CHDs, born in the...

To examine the impact of the introduction of the mid-trimester scan on pregnancy outcome of open spina bifida in two regions of the Netherlands. Retrospective cohort study of 190 pre- or postnatally diagnosed cases of open spina bifida with an estimated date of delivery between 2003 and 2011. With the implementation of the mid-trimester scan the pe...

The umbilical cord normally contains 2 arteries and a single vein. When an umbilical artery is absent, the condition is called single umbilical artery (SUA). The reported prevalence of SUA varies from 0.5% at the second-trimester prenatal ultrasound and in umbilical cord specimens from live-born infants to 2.1% in fetal deaths, autopsies, or aborte...

The aim of this study was to investigate the association of first trimester screening variables nuchal translucency (NT), pregnancy associated plasma protein (PAPP-A) and free β human chorionic gonadotropin (hCG) and birth weight, with a focus on the prediction of macrosomia. The database of our Fetal Medicine Unit was searched for all singleton pr...

Objective: To review the available literature on outcome of pregnancy when an isolated single umbilical artery (iSUA) is diagnosed at the time of the mid-trimester anomaly scan. Methods: We searched MEDLINE (1948-2012), EMBASE (1980-2012) and the Cochrane Library (until 2012) for relevant citations reporting on outcome of pregnancy with iSUA see...

Objective: To describe the incidence and the prognostic value of foetal ventriculomegaly identified between 18-23 weeks of gestational age in the northeastern part of the Netherlands during the 2002-2010 period. Design: Retrospective cohort study. Method: From the database of the University Medical Centre Groningen in the Netherlands, we selec...

Objective: The aim of this study was to evaluate which of the following factors affect the uptake of the combined test (CT) in The Netherlands: women's socio-demographic background, attitude towards Down syndrome, attitude towards termination of pregnancy, counseling process, reimbursement policy, and knowledge on the aim of the CT. Methods: Cro...

Conclusions: CO performed ≤ 18 weeks were associated with a higher rate of complications but with a similar survival rate and a trend for a lower rate of preterm birth < 32 weeks and higher birthweight which should be confirmed in larger series.

Tijdens de zwangerschap kunnen ouders in Nederland sinds kort kiezen voor betrouwbare bepaling van de kans op het downsyndroom rond de 11e week van de zwangerschap en voor screenen op neuralebuisdefecten rond de 20e week. Om de kans op het downsydroom te bepalen wordt informatie over de leeftijd van de zwangere gecombineerd met hormoonspiegels in h...

Correct assessment of gestational age and fetal growth is essential for optimal obstetric management. The objectives of this study were, first, to develop charts for ultrasound dating of pregnancy based on crown-rump length and biparietal diameter and, second, to derive reference curves for normal fetal growth based on biparietal diameter, head cir...

To determine fetal growth in low risk pregnancies at the beginning of the third trimester and to assess the relative importance of fetal gender and maternal parity. Dutch primary care midwifery practice. Retrospective cohort study on 3641 singleton pregnancies seen at a primary care midwifery center in the Netherlands. Parameters used for analysis...

In singleton pregnancies at 10 to 14 weeks of gestation the prevalence of missed abortion is about 2%. In an ultrasound screening study at 10 to 14 weeks of gestation involving 492 twin pregnancies the prevalence of missed abortion was about twice as high as in singletons. The risk of subsequent miscarriage in twin pregnancies with one missed abort...

The objectives of this study were to determine ethnic differences in prenatal growth and to examine their association with differences in maternal and fetal characteristics such as maternal height, weight, age, parity and fetal gender. A total of 1494 women from Rotterdam, The Netherlands, with a low-risk pregnancy who participated in a population-...

In dit artikel wordt het Generation R Onderzoek gepresenteerd. Dit onderzoek bestudeert de groei, ontwikkeling en gezondheid vanaf het vroege foetale leven tot de jongvolwassenheid. Het onderzoek richt zich op vier primaire onderzoeksgebieden: (1) groei en fysieke ontwikkeling, (2) gedragsmatige en cognitieve ontwikkeling, (3) ziekten op de kinderl...

Risicofactoren voor hart- en vaatziekten, type−2-diabetes en obesitas ontwikkelen zich al vanaf de vroege kinderleeftijd. Aangetoond is dat een laag geboortegewicht en een snelle postnatale inhaalgroei het risico op het ontwikkelen van deze risicofactoren verhogen. Zowel vroege voedingsfactoren als genetische factoren zouden hierbij belangrijk kunn...

Risk factors for cardiovascular disease, type 2 diabetes and obesity develop from early childhood. It has been demonstrated that low birth weight and early postnatal catch-up growth increase the risk of developing these risk factors. Both nutritional factors and genetic factors could be important as causal mechanisms. These causal mechanisms should...

To evaluate the performance and use of second-trimester multiple-marker maternal serum screening for trisomy 21 by women who had previously undergone first-trimester combined screening (nuchal translucency, pregnancy-associated plasma protein A, and free beta-hCG), with disclosure of risk estimates. In a multicenter, first-trimester screening study...

Screening for aneuploid pregnancies is routinely carried out after 15 weeks gestation. It is approximately 65% sensitive and has a false-positive rate of 5%. In this multicenter study, a number of markers of aneuploidy were used to screen pregnancies at 74 to 97 days gestation for trisomies 21 and 18. Screening incorporated maternal age, levels of...

In this paper the Generation R Study is presented. This study examines growth, development and health in urban children from fetal life until young adulthood. With an integrated approach of epidemiological, clinical and basic research, it focuses on four primary areas of research: (1) growth and physical development; (2) behavioural and cognitive d...

Screening for aneuploid pregnancies is routinely performed after 15 weeks of gestation and has a sensitivity of approximately 65 percent, with a false positive rate of 5 percent. First-trimester markers of aneuploidy have been developed, but their use in combination has not been adequately evaluated in clinical practice. We conducted a multicenter...

An update of findings from studies on first trimester nuchal translucency screening. New first trimester markers can substantially improve efficacy of screening. When fully informed, preliminary data indicate that women prefer first trimester above second trimester testing. Recent reports on nuchal translucency screening reiterate the importance of...

To describe the process of training for measuring nuchal translucency at five clinical centers in North America and to evaluate methods of quality assurance and feedback. Throughout a period of 18 months, the performance of sonographers in measuring fetal nuchal translucency was monitored using qualitative and quantitative methods of review. After...

There has been an increase in the use of fetal ultrasound in the first trimester. This article reviews the published literature with emphasis on fetal nuchal translucency (NT). When measured according to well-defined guidelines, increased NT identifies about 80% of chromosomal anomalies for a false-positive rate of about 5%. Increased NT may indica...

To determine the effects of chromosomal defects on fetal heart rate at 10-14 weeks of gestation. Fetal heart rate at 10-14 weeks of gestation in 1061 chromosomally abnormal fetuses was compared to that from 25,000 normal pregnancies. The chromosomally abnormal group included 554 cases of trisomy 21, 219 cases of trisomy 18, 95 of trisomy 13, 50 of...

To evaluate the extent that associated findings aid in the differential diagnosis and/or prognosis of fetal echogenic bowel. Medical history, obstetric records and outcome details were examined for 131 consecutive pregnancies with fetal hyperechogenic bowel. In 62 (47%) cases, there were no visible anomalies other than hyperechogenic bowel and no e...

This study assesses two methods used to define relatively short femur in screening for trisomy 21 and examines changes in performance of screening with gestational age. Retrospective analysis of data on menstrual age, femur length (FL) and biparietal diameter (BPD) in 49 trisomy 21 pregnancies and 6069 normal controls. Reference ranges were derived...

In a multicenter screening study for trisomy 21 involving ultrasonographic measurement of fetal nuchal translucency thickness (NT) at 10–14 weeks of gestation, 100,311 singleton pregnancies with a live fetus were examined. There were 46 cases of trisomy 13, and in 33 (72%) of these, the NT was above the 95th centile. The estimated risk for trisomy...

The psychometric properties of an adjusted version of the Texas Grief Inventory (Zisook, Devaul & Click, 1982) were evaluated in a sample of 207 women following an early pregnancy loss. Factor structure of the Inventory was examined, and the validity was assessed by comparing the level of grief in women who became pregnant following a miscarriage a...

Objective To examine the potential impact of combining maternal age with fetal nuchal translucency thickness and maternal serum free β‐human chorionic gonadotropin (β‐hCG) and pregnancy‐associated plasma protein‐A (PAPP‐A) in screening for trisomy 21 at 10–14 weeks of gestation. Methods Maternal serum free β‐hCG and PAPP‐A were measured by Kryptor...

To provide estimates of maternal age- and gestational age-related risks for trisomy 21. The prevalence of trisomy 21 was examined in 57,614 women who had fetal karyotyping at 9-16 weeks of gestation for the sole indication of maternal age of 35 years or more. On the basis of the maternal age distribution and the reported maternal age-related risk f...

To examine the utility of measuring fetal nuchal translucency thickness in screening for major defects of the heart and great arteries at 10-14 weeks of gestation. Population based cohort study. 29 154 singleton pregnancies with chromosomally normal fetuses at 10-14 weeks of gestation. Fetal medicine centre in London. Prevalence of major defects of...

Prenatal diagnosis of trisomy 21 currently relies on assessment of risk followed by invasive testing in the 5% of pregnancies at the highest estimated risk. Selection of the high-risk group by a combination of maternal age and second-trimester maternal serum biochemistry gives a detection rate of about 60%. We investigated assessment of risk by a c...

Increased fetal nuchal translucency thickness at 10-14 weeks of gestation is a common phenotypic expression of fetal chromosomal defects, structural abnormalities and genetic syndromes. This study reports on the prevalence of structural abnormalities and genetic syndromes in 4116 chromosomally normal pregnancies with increased fetal nuchal transluc...

At 10-14 weeks of gestation more than 80 per cent of fetuses affected by trisomy 21 can be detected by a screening programme based on a combination of maternal age and fetal nuchal translucency thickness (NT). The screen positive group in such a programme also identifies fetuses with sex chromosome abnormalities. In this ongoing multicentre screeni...

At 10–14 weeks of gestation more than 80 per cent of fetuses affected by trisomy 21 can be detected by a screening programme based on a combination of maternal age and fetal nuchal translucency thickness (NT). The screen positive group in such a programme also identifies fetuses with sex chromosome abnormalities. In this ongoing multicentre screeni...

A beneficial consequence of screening for trisomy 21 by a combination of maternal age and fetal nuchal translucency thickness (NT) at 1O–l4 weeks is the early diagnosis of trisomy 18. In a multicenter study of 91 091 singleton pregnancies there were 106 fetuses with trisomy 18 and (83% were identified by NT screening. Trisomy 18 was also associated...

In three cases of lumbosacral spina bifida diagnosed at 12, 13 and 14 weeks of gestation there was an associated lemon sign, or scalloping of the frontal bones, and in one case the fetal nuchal translucency was increased. In a multicenter ultrasound screening study at 10-14 weeks there were 61,972 singleton pregnancies including 29 cases of spina b...

In a multicenter project of screening for chromosomal defects by fetal nuchal translucency thickness and maternal age at 10-14 weeks, 14 of 106,727 fetuses examined had body stalk anomaly. The ultrasonographic features were a major abdominal wall defect, severe kyphoscoliosis and a short umbilical cord. In all cases, the upper part of the fetal bod...

Objective: To examine the possible association between increased fetal nuchal translucency thickness at 10-14 weeks and congenital diaphragmatic hernia. Methods: This was a multicenter ultrasound screening study for chromosomal defects in singleton pregnancies by a combination of maternal age and fetal nuchal translucency at 10-14 weeks' gestati...

Screening for fetal cardiac defects is traditionally based on the ultrasonographic examination of the four-chamber view of the fetal heart at mid-gestation, which has been shown to identify 26% of major cardiac defects. Pathological studies in fetuses with increased nuchal translucency at 10-14 weeks of gestation, a sonographic marker for chromosom...

In an ultrasound screening study at 10 to 14 weeks of gestation for measurement of fetal nuchal translucency thickness there were 102 monochorionic and 365 dichorionic twin pregnancies. In the monochorionic compared with the dichorionic pregnancies there was a higher rate of fetal loss before 24 weeks of gestation (12.2% versus 1.8%), perinatal mor...

We have examined maternal urine concentrations of beta core, free beta human chorionic gonadotrophin (hCG), and total oestriol in 373 control pregnancies and 43 pregnancies affected by aneuploidy (including 22 cases of Down's syndrome) in an attempt to see if any of the analytes have a value in Down's syndrome screening between the tenth and 14th w...

This study examines the ultrasonographic features of congenital lethal arthrogryposis. In 27 cases of arthrogryposis diagnosed in the second and third trimesters there was severe bilateral talipes, fixed flexion deformities of the wrists and elbows and either fixed flexion or extension of the knees. In seven (26%) of the cases there was nuchal edem...

Maternal serum free beta-hCG was measured at 10 to 14 weeks of gestation in 136 normal twin pregnancies and in 12 twin pregnancies where one or both fetuses had trisomy 21. The values were compared with a normal range from 4181 singleton pregnancies. In the normal twins the median free beta-hCG (65 ng/mL) was about twice as high as in singletons (3...

There are three major issues that remain subject to debate in relation to fetal growth retardation: (1) Which method should be used to identify the affected population? (2) Which biophysical test(s) is most appropriate to assess the pregnancy? (3) Which factors are important when considering elective delivery? This review summarizes recent studies...

To determine the relation between maternal serum inhibin-A and free beta-hCG concentrations in chromosomally normal pregnancies and to compare the two biochemical markers for their sensitivity in identifying trisomy 21 pregnancies. Inhibin-A and free beta-hCG were measured in maternal serum samples from 800 chromosomally normal singleton pregnancie...

Our purpose was to investigate the role of ultrasonography and maternal serum human chorionic gonadotropin in the early prenatal diagnosis of triploid pregnancies. A retrospective study on 61,314 consecutive singleton pregnancies examined by ultrasonography at 10 to 14 weeks' gestation was performed to identify the prenatal features of those compli...

To investigate the relation between increased fetal nuchal translucency thickness at 10-14 weeks of gestation and maternal-fetal infection. Prospective study. Harris Birthright Research Centre for Fetal Medicine. Four hundred and twenty-six chromosomally normal pregnancies with increased fetal nuchal translucency thickness at 10-14 weeks of gestati...

To examine options of management and outcome of twin pregnancies affected by fetal trisomies. Retrospective study. Research Centre for Fetal Medicine. Twenty-seven twin pregnancies affected by fetal trisomy. A computer search was made of our database for twin pregnancies concordant or discordant for trisomies. The data were reviewed for gestation a...

Our purpose was to examine the feasibility of diagnosing the Meckel-Gruber syndrome at 11 to 14 weeks' gestation, both in high-risk pregnancies and during routine ultrasonographic screening for fetal chromosomal abnormalities. The high-risk population consisted of 9 pregnancies in 7 women with previous pregnancies affected by the Meckel-Gruber synd...

Özet Gebelikte en s›k uygulanan tarama testi Down sendromunu saptamaya yönelik oland›r. ‹lk defa 1866'da Langdon Down'›n tan›mlad›¤› sendrom, canl› doumlarda en s›k rastlanan kro- mozom anomalisidir. Down sendromu, 1980'lerde maternal yafl ile saptanmaya çal›fl›l›yordu, daha sonra üçlü test uygula- maya girdi. 1990'lar›n bafl›nda Down sendromlu fet...

In an ongoing study involving seven hospitals in London and surrounding areas, 55,237 fetuses were examined by ultrasound at 10-14 weeks of gestation. There were 47 fetuses (1 in 1175) with anencephaly which presented with acrania with varying degrees of cerebral degeneration. The first audit of results was performed in April 1995. During the first...

Gestation at delivery, birthweight and pregnancy outcome of surviving fetuses from 127 multifetal pregnancies undergoing embryo reduction to twins were compared to 354 chromosomally normal non-reduced dichorionic twin pregnancies. First-trimester embryo reduction was carried out by intracardiac injection of KCl. In 16 (12.6%) of the 127 multifetal...

During the study period, 24 492 pregnant women attended the Harris Birthright Research Centre at 10–14 weeks of gestation, at which time, in addition to the measurements of nuchal translucency thickness and crown-rump length (CRL), data on fetal abnormalities were recorded onto a computer database. Cases of megacystis were identified and the record...

To determine the prevalence of increased fetal nuchal translucency thickness in twin pregnancies and to evaluate screening for trisomy 21 by a combination of translucency thickness and maternal age. Prospective screening study at 10 to 14 weeks of gestation. Fetal Medicine Centre. 22,518 self-selected pregnant women at 10 to 14 weeks of gestation,...

To evaluate screening for chromosomal defects by a combination of fetal nuchal translucency thickness and maternal age. A prospective multicentre screening study where fetal nuchal translucency thickness was measured at 10 to 14 weeks of gestation. 20,804 women with singleton pregnancies screened at 10 to 14 weeks of gestation from 1 September 1992...

Fetal heart rate was measured routinely as part of a prospective study examining the efficacy of screening for trisomy 21 by fetal nuchal translucency thickness and maternal age. In 6903 normal singleton pregnancies the fetal heart rate decreased from a mean of 171 bpm at 10 weeks of gestation to 156 bpm at 14 weeks (r = 0.413, p < 0.0001). In 85 t...

In an ultrasound screening study at 10-13 weeks of gestation involving 17,870 women, the prevalence of early pregnancy failure was 2.8% (501 cases), including 313 (62.5%) missed abortions and 188 (37.5%) anembryonic pregnancies. Lower gestation and higher maternal age were associated with a higher prevalence (chi 2 = 143.5; p < 0.001 and chi 2 = 53...

This study investigates whether first-trimester screening for trisomy 21 by fetal nuchal translucency thickness preferentially identifies those fetuses destined to die in utero and examines the potential impact of such a method of screening on the live birth incidence of trisomy 21. In 70 pregnancies, trisomy 21 was diagnosed at 12 (range 11-14) we...

The aim of this prospective study was to measure the contribution of maternal serum free beta-human chorionic gonadotropin (beta-hCG) in a screening program for fetal trisomy 21 based on fetal nuchal translucency in the first trimester of pregnancy. The maternal serum was collected at the time of the ultrasound scan and assayed without knowledge of...

During a 7-year period (1988-94), we diagnosed 102 fetuses with trisomy 18, and 54 with trisomy 13; in 6.9% of the trisomy 18 and in 40.7% of the trisomy 13 fetuses, there was a facial cleft. On the basis of (1) these frequencies of facial cleft in trisomic fetuses; (2) the reported prevalence of facial cleft in mid-trimester fetuses; and (3) estim...

Objective To evaluate screening for chromosomal defects by a combination of fetal nuchal translucency thickness and maternal age. Design A prospective multicentre screening study where fetal nuchal translucency thickness was measured at 10 to 14 weeks of gestation. Subjects 20,804 women with singleton pregnancies screened at 10 to 14 weeks of gesta...

In an ultrasound screening study involving 15,726 viable, singleton pregnancies at 11-14 weeks of gestation, exomphalos was diagnosed in 0.11% of the cases and, in those with exomphalos, the frequency of trisomy 18, trisomy 13 or triploidy was 61%. The corresponding frequencies of exomphalos of fetuses with these chromosomal defects were 22.5%, 9.1...

The presence of multiple ultrasonographic abnormalities is associated with a significantly increased risk of chromosomal defects, while for isolated abnormalities, the association is less clear. In a study of 1,177 fetuses with mild hydronephrosis at 16-26 weeks of gestation, the fetal karyotype was abnormal in 86 (7.3%) of the cases and the most c...

This study provides estimates of risks for a wide range of chromosomal defects taking into account maternal age as well as the gestation at assessment. The estimates make it possible to counsel patients presenting at different stages of pregnancy. At the same time, they offer the possibility of evaluating the efficacy of biochemical and ultrasonogr...