Down's syndrome screening with nuchal translucency at 12+0-14+0 weeks and maternal serum markers at 14+1-17+0 weeks: a prospective study

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Increased fetal nuchal translucency at 11-14 weeks.

Nuchal translucency (NT) is the sonographic appearance of a subcutaneous collection of fluid behind the fetal neck. The measurement of fetal NT thickness at the 11-14-week scan has been combined with maternal age to provide an effective method of screening for trisomy 21; for an invasive testing rate of 5%, about 75% of trisomic pregnancies can be identified. When maternal serum free-beta human...

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Detection of sex chromosome abnormalities by nuchal translucency screening at 10-14 weeks.

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 screening study, involving 61,972 singleton pregnancie...

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Cystic hygromas, nuchal edema, and nuchal translucency at 11-14 weeks of gestation.

OBJECTIVE To estimate the incidence of septations in fetuses with increased nuchal translucency (NT) thickness, and to investigate the relationship between the length and thickness of the translucency and whether the length or septations provide useful information concerning the fetal karyotype in addition to that provided by the NT thickness alone. METHODS We examined 386 fetuses with NT thi...

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Blackfan-Diamond anemia and dyserythropoietic anemia presenting with increased nuchal translucency at 12 weeks of gestation.

Blackfan-Diamond anemia is a congenital hypoplastic anemia with a birth prevalence of about 1 in 200,000, usually presenting in the first few months of life and commonly associated with cardiac, urogenital and digital anomalies. Congenital dyserythropoietic anemias are a group of rare congenital anemias characterized by ineffective erythropoiesis. We report on two cases of congenital fetal anem...

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Screening for Trisomy 18 by Fetal Nuchal Translucency and Maternal Serum Free -hCG and PAPP-A at 10–14 Weeks of Gestation

In a study of 50 cases of trisomy 18 compared with 947 controls we have found the median multiple of the median (MoM) of maternal serum free human chorionic gonadotrophin to be significantly decreased (0.281 MoM) in samples collected between the 10th and 14th week of gestation. Similarly, maternal serum pregnancy associated plasma protein A (PAPP-A) levels are also decreased (0.177 MoM), whilst...

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ژورنال

عنوان ژورنال: Human Reproduction

سال: 2002

ISSN: 1460-2350

DOI: 10.1093/humrep/17.4.1093