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[Nuchal translucency: screening for chromosomal abnormalities and congenital malformations. Multicenter study]
Journal De Gynecologie, Obstetrique Et Biologie De La Reproduction
|December 22, 1999
Summary
First-trimester nuchal translucency screening identified a 7.4% rate of chromosomal abnormalities. If fetal karyotype is normal, congenital malformation incidence appears similar to the general population.
Area of Science:
- Prenatal Diagnosis
- Fetal Medicine
- Genetics
Background:
- First-trimester nuchal translucency measurement is a key screening tool.
- Elevated nuchal translucency may indicate increased risk for chromosomal abnormalities.
Purpose of the Study:
- To determine the rate of chromosomal abnormalities in fetuses with increased nuchal translucency.
- To assess the postnatal outcomes and congenital malformation rates in these children.
Main Methods:
- A multicenter prospective study involving 4,582 patients.
- Nuchal translucency was measured between 10-14 weeks' gestation.
- Fetal karyotyping was performed for measurements > 2.5 mm.
Main Results:
- 358 cases had nuchal translucency > 2.5 mm, with 334 karyotypes performed.
- 25 chromosomal anomalies were detected (7.4%), including trisomies 21, 18, 13, triploidy, and trisomy X.
- Three congenital malformations (0.9%) were observed postnatally.
Conclusions:
- Nuchal translucency > 2.5 mm is associated with a 7.4% risk of chromosomal anomalies.
- Normal fetal karyotype suggests a congenital malformation incidence comparable to the general population.
- Larger studies are needed for more representative data.