holoprosencephaly/edema

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Prenatal diagnosis of de novo monosomy 7q33-qter associated with hydrops fetalis, semilobar holoprosencephaly, and premaxillary dysgenesis.

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Prenatal diagnosis of alobar holoprosencephaly with cystic hygroma.

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OBJECTIVE Holoprosencephaly is a kind of brain anomaly characterized by inadequate cleavage of the prosencephalon during early embryogenesis. In addition, holoprosencephaly associated with cystic hygroma and hydrops fetalis has never been reported. In this article, we report a rare case of

Holoprosencephaly: prenatal sonographic diagnosis.

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Fourteen cases of holoprosencephaly (HP), including 10 cases of alobar HP and four cases of semilobar HP, were identified by prenatal sonography. Intracranial and extracranial findings were reviewed to determine the accuracy and spectrum of the sonographic features. All 14 cases were reliably

Holoprosencephaly, cephalothorax' appearance with multiple cardiac anomalies: a diagnostic challenge.

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Holoprosencephaly is one of the rare types of craniofacial congenital anomaly characterized by failure of differentiation of the procencephalon to diencephalon and telencephalon derivatives that accompanied by variable degree of orbitofacial dysmorphism. The case presented to our hospital in the

Distal 3p duplication and terminal 7q deletion associated with nuchal edema and cyclopia in a fetus and a review of the literature.

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OBJECTIVE To present perinatal detection of distal 3p duplication and terminal 7q deletion associated with nuchal edema and cyclopia in a fetus, and to review the literature. METHODS A 32-year-old, G9P0, woman who had experienced eight spontaneous abortions was found to have fetal nuchal edema,

Prenatal ultrasonic detection of anomalies with a lethal or disastrous outcome.

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Although rare, a number of fetal anomalies can be detected with ultrasound in which the prognosis is either fetal death or minimal development. Anomalies of this type include anencephaly, holoprosencephaly, hydranencephaly, iniencephaly, cystic hygroma with hydrops, cystadenomatoid malformation of

[Prevalence in birth defects diagnosed by ultrasound: three years experience in university maternal fetal medicine unit].

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OBJECTIVE To establish the prevalence of congenital malformations diagnosed in Maternal-Fetal Medicine Unit of Hospital de San José, Bogotá-Colombia and comparing them to national and international reports. METHODS Retrospective, descriptive observational where the quantification of all malformed

Fetal ultrasound abnormalities: correlation with fetal karyotype, autopsy findings, and postnatal outcome--five-year prospective study.

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A 5-year prospective prenatal study in 151 pregnancies with 152 malformed fetuses detected by ultrasound was evaluated cytogenetically. Thirty-five fetuses (23%) had abnormal karyotypes. Specific anatomical fetal malformations identified by ultrasound increase the risk for fetal chromosome

First-trimester detection of structural abnormalities and the role of aneuploidy markers.

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OBJECTIVE To determine the sensitivity of first-trimester ultrasound for diagnosing different structural anomalies in chromosomally normal pregnancies, and to establish the role of aneuploidy markers in the detection of abnormalities. METHODS This was a retrospective study of chromosomally normal

Pediatric neurology participation in a fetal diagnostic service.

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Fetal neurologic consultations were provided to 166 maternal-fetal pairs over a 5-year period. Consultations were initiated during the second trimester in 46% (74/166) of pairs. Fifty-percent (83/166) of these consultations involved brain malformations, of which 55% (46/83) were also associated with

Association between selected structural defects and chromosomal abnormalities.

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OBJECTIVE To determine the association between some major structural abnormalities detected prenatally by ultrasound and chromosomal abnormalities. METHODS The present study was a retrolective, transversal study. We analyzed case records of patients during the fetal follow-up at the Department of

Rapid aneuploidy diagnosis by multiplex ligation-dependent probe amplification and array comparative genomic hybridization in pregnancy with major congenital malformations.

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OBJECTIVE To report five cases of major congenital malformations associated with common aneuploidies detected by rapid aneuploidy diagnosis. METHODS The fetus in the first case presented cebocephaly, semilobar holoprosencephaly, and tetralogy of Fallot on ultrasound at 25 gestational weeks.

Clinical characteristics and survival of trisomy 13 in a medical center in Taiwan, 1985-2004.

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BACKGROUND This study investigated the survival and natural history of trisomy 13 in a series of patients, comparing the management and outcome before and after the implementation of Taiwan's National Health Insurance program (NHI). METHODS A total of 28 cases of trisomy 13 seen at Mackay Memorial

The ultrasound markers of chromosomal disease: a retrospective study.

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Over a 3 year period 37 pregnancies were complicated by a chromosomal abnormality. In the two cases of trisomy 13, holoprosencephaly, facial clefting, polydactyly and growth retardation were seen. In the seven cases of trisomy 18, abnormalities of the extremities, face and heart were common. Growth

A Retrospective Study of Cytogenetic Results From Amniotic Fluid in 5328 Fetuses With Abnormal Obstetric Sonographic Findings.

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OBJECTIVE The purpose of this study was to evaluate the diagnostic utility of karyotype analysis of amniotic fluid for fetuses with abnormal sonographic findings and to determine the detection rates of abnormal karyotypes. METHODS We conducted a retrospective study of 5328 fetuses with abnormal

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