Prenatal diagnosis availability

FISH in prenatal diagnosis

✍ Michael L. Begleiter; Holly A. Ishmael 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 33 KB 👁 1 views

In our paper we presented a simple tabulation of the published results we judged to be valid, together with a weighted average of the fetal loss rates, to provide an indication of the summary estimates (43% after CVS and 23% after amniocentesis). The fact that they are in agreement with Cuckle's `in

Prenatal diagnosis of cyclopia

✍ Elejalde, B. Rafael ;de Elejalde, Maria Mercedes ;Hamilton, Phillip R. ;Christen 📂 Article 📅 1983 🏛 John Wiley and Sons 🌐 English ⚖ 271 KB 👁 2 views

Prenatal diagnosis of Canavan disease

✍ Reuben Matalon; Kimberlee Michals-Matalon 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 90 KB 👁 2 views

Prenatal diagnosis of Apert syndrome

✍ Chi-Chen Chang; Fuu-Jen Tsai; Horng-Der Tsai; Chang-Hai Tsai; Yao-Yuan Hsieh; Ch 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 208 KB 👁 2 views

Apert syndrome (AS) is clinically characterized by typical facial features and symmetrical syndactyly of the digits. AS is inherited as an autosomal dominant trait. Recently, a fibroblast growth factor receptors 2 (FGFR2) mutation, either C934G or C937G, was identified in exon IIIa. Our report docum

Prenatal diagnosis of Friedreich ataxia

✍ Massimo Pandolfo; Laura Montermini 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 110 KB 👁 2 views

Friedreich ataxia (FRDA) is an autosomal recessive disorder, the most common of the inherited ataxias. It has an estimated prevalence of 1 in 50 000 and a carrier frequency of about 1 in 90 in Caucasians (Cosse ´e et al., 1997;Leone et al., 1990). It is extremely rare among the Chinese and Japanese

Iniencephaly: prenatal diagnosis and man

Iniencephaly: prenatal diagnosis and management

✍ Solange Sahid; Waldo Sepulveda; Victor Dezerega; Jorge Gutierrez; Luis Rodriguez 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 146 KB 👁 1 views

Iniencephaly is a rare malformation characterized by the triad of occipital bone defect, cervical dysraphism and ®xed retro¯exion of the fetal head. Because of its almost invariable lethal prognosis, termination of pregnancy is commonplace when this condition is diagnosed before viability. In this r