Ultrasound image at 12 weeks, showing the encephalocele, transverse view. 

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... prenatal control was negative for TORCH and she was 0+ blood group. During the first trimester scan on the 13th week, the NT was found 2.7 mm, the ductus venosus Doppler was normal, and the nasal bone was present. Hydrops fetalis was present though, and the parents were advised for chorionic villus sampling (CVS), but they opted for termination of preg- nancy ( Fig. 1, 2). The molecular control by QF-PCR showed normal karyotype for 13 and 18, a male fetus, but non-dysjunc- tion trisomy 21 was present. Parental karyotype was advised, but they refused to perform it. One year later, the couple had another pregnancy. On the 12th week scan, the NT was meas- ured 1.0 mm, the ductus venosus Doppler was normal, the na- sal bone was present, but encephalocele was also found (Fig. 3-5), and the parents were consented again for termination of pregnancy. The molecular control showed the same results. This time parental karyotype was performed. The father had a normal one, whereas the mother showed reversed p11 and q13 zones in chromosome 2. Genetical consulting and prenatal cytological control was advised in before next pregnancy. Ongoing technological development, including high-frequen- cy transvaginal scanning, has allowed the resolution of ultra- sound imaging in the first trimester to a step at which early fetal development could be monitored in detail [9, 10]. First trimester echo here refers to a stage of pregnancy starting from the time at which viability can be confirmed which means the presence of a gestational sac in the uterus with an embryo re- porting cardiac activity up to 13 + 6 weeks of gestation [11- 14]. Towards the end of the first trimester, the echo could give an opportunity to detect gross fetal abnormalities and it offers first-trimester aneuploidy screening, measure the NT thickness [15, 16]. However we should refer that many malformations may develop later in pregnancy or may not be detected even with appropriate equipment and in the most experienced of hands [17]. The second-trimester 18 - to 22-week echo remains the standard for the detection of fetal anatomy in both low-risk and high-risk pregnancies [18]. First-trimester evaluation of fetal anatomy and detection of anomalies was introduced in the late 1980s and early 1990s with the advent of effective transvaginal probes. The introduc- tion of NT aneuploidy screening in the 11- to 13 + 6-week window has given an interest in early anatomy scanning. The advantages include early detection and exclusion of many abnormalities, early reassurance to high-risk mothers, earlier genetic diagnosis and easier pregnancy termination if ...