Evaluation of Trisomy 21 Screening by Fetal Nuchal Translucency Thickness, Maternal Age and Biochemical Serum in the South of Vietnam

Tomai, Xuan-Hong; Schaaps, Jean-Pierre

doi:10.4172/2161-0932.1000122

Cited by 1 publication

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“…In mosaic Down syndrome, which is a rare, the children have some cells with an extra copy of chromosome 21. This mosaic of normal and abnormal cells is caused by abnormal cell division after fertilization [ 7 , 8 ]. We present an interesting case of a couple in their first pregnancy with a fetus with increased NT, hydrops fetalis and trisomy 21 in karyotype, diagnosed by ultrasound at 13 weeks of gestation and in their second pregnancy with a fetus with normal NT, encephalocele and trisomy 21 again diagnosed by ultrasound and karyotyping at 12 weeks of gestation.…”

Section: Introductionmentioning

confidence: 99%

Variation of Ultrasound Findings in the First Trimester Examination of Recurrent Cases With Trisomy 21

et al. 2015

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Increased nuchal translucency (NT) is present in about 50% of cases with trisomy 21. Very often the nuchal edema evolves in hydrops fetalis until the second trimester. Furthermore, a small amount of cases with a normal NT and trisomy 21 exhibit anatomical anomalies. We present a case of a 21-year-old woman, nulliparous, with a history of one termination of pregnancy and a smoking quitter. The prenatal control was negative for TORCH. 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 pregnancy. The molecular control by QF-PCR showed normal karyotype for 13 and 18, a male fetus, but non-dysjunction 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 found 1.0 mm, the ductus venosus Doppler was normal, and the nasal bone was present, but encephalocele was also found, and the parents consented again for termination of pregnancy. The new 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.

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Section: Introductionmentioning

confidence: 99%