Prenatal diagnosis of genetic microcephaly

Pescia, G; Nguyen-The, H; Deonna, T

doi:10.1002/pd.1970030416

Cited by 8 publications

(5 citation statements)

References 2 publications

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“…In contrast to patient 2 of Pescia et al,2 the biparietal diameter in our second sib was already distinctly below normal at 15 weeks' gestation, and microcephaly progressed during the period of observation up to week 24. Therefore, intrauterine onset of microcephaly was earlier in our family than in the family of Pescia et al 2 The degree of microcephaly at birth was also more severe in the family of this report with an OFC at birth of 26 cm versus 28 and 29 5 cm respectively. Obviously, the ultrasonographic examinations in these two families do not allow one to conclude that every case of autosomal recessive microcephaly is detectable as early as the second trimester of pregnancy.…”

Section: Discussionsupporting

confidence: 43%

Autosomal recessive severe congenital microcephaly: antenatal ultrasonographic diagnosis and head growth from 15 to 24 weeks of gestation

Schinzel

Litschgi

1984

Journal of Medical Genetics

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Section: Discussionsupporting

confidence: 43%

Autosomal recessive severe congenital microcephaly: antenatal ultrasonographic diagnosis and head growth from 15 to 24 weeks of gestation

Schinzel

Litschgi

1984

Journal of Medical Genetics

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“…Prenatal diagnosis of severe recessive microcephaly has been successfully attempted (Pescia et al 1983, Schinzel & Litschgi 1984, Nguyen The et al 1985. On the other hand, other reports, including ours, indicate that slowing of fetal head growth might not be detectable until too late in pregnancy (Campbell & Pearce 1983).…”

Section: Discussionmentioning

confidence: 99%

Autosomal recessive microcephaly with early onset seizures and spasticity

et al. 1992

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We describe two siblings, a male and a female pair, born of consanguineous parents, affected with a rare genetic form of congenital microcephaly. The clinical syndrome is characterized by early onset myoclonic seizures, spasticity, and profound psychomotor retardation without detectable brain malformations. To date, only two kindreds and one sporadic case with a similar clinical picture have been observed and reported (Tolmie et al. 1987, Bundey & Griffiths 1977). The severity of the neurological features and their perinatal onset differentiate the syndrome from the more common autosomal recessive microcephaly with spasticity/seizures.

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“…The confident diagnosis of microcephaly may not be confirmed until well into the second trimester (Campbell and Pearce 1983). Some authors, however, do report diagnosis early in the second trimester, but stress the inacccuracies of the procedure (Pescia et al 1983). Therefore the confirmation of the diagnosis may be established only at a stage of gestation when safe termination may not be feasible.…”

Section: Discussionmentioning

confidence: 99%

The Dilemma in Prenatal Diagnosis of Idiopathic Microcephaly

Jaffe¹,

Tirosh²,

Oren

1987

Develop Med Child Neuro

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SUMMARY It is estimated that 20 to 35 per cent of idiopathic microcephaly is hereditary. Common practice dictates that after the birth of such a case, subsequent pregnancies should be monitored ultrasonographically in order to facilitate early antenatal diagnosis, and thus genetic counselling. Two cases are reported to indicate the difficulties encountered. In case 1 head growth appeared to be normal until the 20th week of gestation and then slowed down to 31cm at birth. In case 2 head growth proceeded normally until the 28th week of gestation; at birth it was 32cm and over the succeeding months became markedly microcephalic. The accuracy of various ultrasonographic techniques is reviewed, and the limitations are discussed. In the light of these findings it is concluded that reliable prenatal diagnosis of hereditary microcephaly is not available as yet. RÉSUMÉ Dilemne du diagnostic prénatal de la microcéphalie héréditaire On estime que 20 à 35 pour cent des microcéphalies idiopathiques sont héréditaires. La pratique communeconduit après la naissance de tels cas à contrôler par échographie les grossesses ultérieures en vue de faciliter un diagnostic anténatal precoce et établir un conseil génétique. L'article rapporte deux cas qui soulignent les difficultés rencontrées. Dans le cas 1, la croissance céphalique a paru normale jusqu'à la 20éme semaine de gestation et s'est ralentie ensuite, atteignant 31cm à la naissance. Dans le cas 2, la croissance céphalique s'est poursuivie normalement jusqu'à la 28éme semaine de gestation. A la naissance, le tour de tête était de 32cm et la microcéphalic devint marquée dans les mois suivants. La précision de techniques échographiques variées est analysée et les limitations sont discutées. A la lumiere de ces donnees, les auteurs concluent qu'un diagnostic prénatal fiable de la microcéphalic héréditaire n'est pas possible. ZUSAMMENFASSUNG Die Schwierigkeit in der Beurteilung der idiopathischen Mikrocephalie bei der pränatalen Diagnose Man nimmt an, daß 20 bis 25 Prozent der idiopathischen Mikrocephalie erblich sind. Die allgemeine Praxis schreibt vor, daß nach der Geburt eines solchen Falles, nachfolgende Schwangerschaften durch Ultraschall überprüft werden sollten, um eine frühe pränatale Diagnose stellen und eine entsprechende genetische Beratung durchfiihren zu können. Es werden zwei Fälle vorgestellt, an denen die damit verbundenen Schwierigkeiten gezeigt werden. Bei Fall 1 schien das Kopfwachstum bis zur 20. Gestationswoche normal und verlief dann protrahiert, so daß der Kopfumfang bei der Geburt 31cm betrug. Bei Fall 2 verlief das Kopfwachstum bis zur 28. Gestationswoche noch normal; bei der Geburt betrug der Kopfumfang 32cm und entwickelte sich in den folgenden Monaten deutlich mikrocephal. Die Genauigkeit verschiedener Ultraschallmethoden wird überprüft und es wird über ihre Grenzen diskutiert. Aufgrund der vorliegenden Befunde kommen die Autoren zu dem Schluß, daß es keine zuverlässige Methode zur pranatalen Diagnose der herititären Mikrocephalie gibt. RESUMEN El dilema ...

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Prenatal diagnosis of genetic microcephaly

Abstract: True microcephaly can be diagnosed at an early stage of gestation by serial measurements of fetal head growth as demonstrated by this case report in which the diagnosis of genetic microcephaly was made but termination refused. True microcephaly was evident at birth.

Cited by 8 publications

References 2 publications

Autosomal recessive severe congenital microcephaly: antenatal ultrasonographic diagnosis and head growth from 15 to 24 weeks of gestation

Autosomal recessive severe congenital microcephaly: antenatal ultrasonographic diagnosis and head growth from 15 to 24 weeks of gestation

Autosomal recessive microcephaly with early onset seizures and spasticity

The Dilemma in Prenatal Diagnosis of Idiopathic Microcephaly

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