Upper Limb Phocomelia Associated With Increased Nuchal Translucency in a Monochorionic Twin Pregnancy

Souter, Vivienne; Nyberg, David A.; Siebert, Joseph R.; Gonzales, Amy L.; Luthardt, Fred; Hannibal, Mark C.; Glass, Ian A.

doi:10.7863/jum.2002.21.3.355

Cited by 11 publications

(8 citation statements)

References 32 publications

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“…However, to the best of our knowledge, this is the first case in which the thickened NT led to the prenatal diagnosis of limb anomaly secondary to amniotic band syndrome. In cases of fetal upper limb abnormalities, the association between increased NT and upper limb amelia has been reported [12,13]. The pathophysiological mechanisms underlying the relationship between fetal upper limb abnormalities and thickened fetal nuchal fold are not clear.…”

Section: Discussionmentioning

confidence: 99%

Abnormal first-trimester fetal nuchal translucency and amniotic band syndrome

et al. 2012

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We report a case of amniotic band syndrome diagnosed prenatally by serial sonographic examinations. Our initial sonographic image showed a large fetal nuchal translucency (NT) at 12 weeks' gestation. Repeated fetal ultrasound images revealed an amniotic band and right upper limb anomaly. Fetal MRI at 19 weeks' gestation revealed right forearm hypoplasia and pseudosyndactyly. The fetus was prenatally diagnosed with amniotic band syndrome and was suspected of having severe functional impairment of the deformed limb. The parents decided to terminate the pregnancy at 21 weeks' gestation. In fetuses with aneuploidy and various structural and genetic abnormalities, the NT thickness is increased in the first trimester. As far as we are aware, this is the first case report of increased NT and limb anomaly associated with amniotic band syndrome. In chromosomally normal fetuses with increased NT, intensive sonographic follow-up should provide grounds for a precise antenatal diagnosis.

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Section: Discussionmentioning

confidence: 99%

Abnormal first-trimester fetal nuchal translucency and amniotic band syndrome

et al. 2012

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“…A wide range of fetal abnormalities has been reported in fetuses with increased NT. The prevalence of major cardiac defects , [Gembruch et al, 1993; Achiron et al, 1994; Hyett et al, 1996, 1997, 1999; Bilardo et al, 1998; Josefsson et al, 1998; Souka et al, 1998, 2001; Schwarzler et al, 1999; Zosmer et al, 1999; Ghi et al, 2001; Mavrides et al, 2001; Michailidis and Economides, 2001; Orvos et al, 2002; Galindo et al, 2003; Hafner et al, 2003; Lopes et al, 2003; Makrydimas et al, 2003; McAuliffe et al, 2003; Smrcek et al, 2003], diaphragmatic hernia , [Bulas et al, 1992; Nadel et al, 1993; Pandya et al, 1995; Van Vugt et al, 1998; Mangione et al, 2001; Souka et al, 2001; Varlet et al, 2003], exomphalos [Ville et al, 1992; Nadel et al, 1993; Pandya et al, 1995; Snijders et al, 1995; Cha'Ban et al, 1996; van Zalen‐Sprock et al, 1997; Adekunle et al, 1999; Mangione et al, 2001; Souka et al, 2001; Senat et al, 2002; Schemm et al, 2003], body stalk anomaly [Van Vugt et al, 1998; Smrcek et al, 2003], skeletal defects [Fisk et al, 1991; Hewitt, 1993; Soothill et al, 1993; Trauffer et al, 1994; Meizner and Barnhard, 1995; Ben Ami et al, 1997; Eliyahu et al, 1997; Hernadi and Torocsik, 1997; Petrikovsky et al, 1997; den Hollander et al, 1997; Brady et al, 1998; Fukada et al, 1998; Hafner et al, 1998; Hill and Leary, 1998; Souka et al, 1998, 2001; Adekunle et al, 1999; Lam et al, 1999; Hiippala et al, 2001; Hull et al, 2001; Makrydimas et al, 2001; Mangione et al, 2001; Percin et al, 2001; Fukada et al, 2002; Monteagudo et al, 2002; Souka et al, 2002; Souter et al, 2002; Clementschitsch et al,…”

Section: Increased Nuchal Translucency—types Of Abnormalitiesmentioning

confidence: 99%

First trimester ultrasonography in screening and detection of fetal anomalies

Sonek

2007

American J of Med Genetics Pt C

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An obstetrical ultrasound examination provides invaluable information regarding the fetus. Until the mid-1980s, ultrasound in the first trimester was limited to localization of the pregnancy, establishing viability, and accurate dating. With the advent of high-resolution ultrasound and transvaginal scanning, a significant amount of information about the fetus can be gained and provided to the patient at a very early stage in gestation. This article provides an overview of the role of first trimester (11-13 þ 6 weeks' gestation) ultrasound in screening and diagnosis of fetal anomalies. The first trimester is an ideal time for screening for aneuploidy, primarily due to the advantages that nuchal translucency (NT) measurement provides. NT measurement is also useful in establishing the risk of congenital cardiac disorders and a number of genetic and non-genetic syndromes. Significant NT thickening is associated with an increase in perinatal morbidity and mortality. Potential mechanisms resulting in increased NT are discussed. A number of new ultrasound markers for fetal aneuploidy have been investigated over the past several years, some of which appear to improve the screening efficacy of early ultrasonography. The role of these is reviewed. A number of fetal anomalies can now be consistently diagnosed in the first trimester. Their appearance at this early gestational age is discussed as well. It is clear that, data obtained by first trimester ultrasound are useful in counseling expectant parents and in planning the appropriate follow-up.

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“…[9][10][11][12][13] A number of limb abnormalities have now been diagnosed in the first trimester, including amelia, 14 radial aplasia and club hand, 15 clubfoot, 16 sirenomelia, 17,18 and phocomelia. 19 However, most of these were described in case reports 14,[17][18][19] or small retrospective analyses. 15,16,20 Here, we report the largest population study to determine the sensitivity of first-trimester ultrasonographic screening for the detection of fetal limb abnormalities.…”

Section: Introductionmentioning

confidence: 99%

Routine screening for fetal limb abnormalities in the first trimester

Liao

Luo

et al. 2015

Prenatal Diagnosis

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Objective We aim to determine the accuracy of first-trimester ultrasonography in detecting fetal limb abnormalities.Methods This is a retrospective study of all women undergoing fetal nuchal translucency (NT) assessment and detailed fetal anatomic survey in the first trimester at a single tertiary-care referral center in China. Fetal anatomy scans were repeated in the second trimester. Detection of fetal limb abnormalities was compared between first and second trimester anatomy scans and confirmed at delivery or at autopsy.Results Analyzed were 9438 fetuses from 9197 women (241 twin pairs). The incidence of fetal limb abnormalities was 0.38% (36/9438). Of these, 28 (77.8%) were diagnosed prenatally: 23 (63.9%) on first trimester scan and 5 (13.9%) on second trimester scan. Limb reduction defects (usually transverse limb deficiencies) were the most common limb defects identified in the first trimester (n = 12), followed by clubfoot (n = 4), skeletal dysplasia (n = 3), sirenomelia (n = 1), limb dysplasia (n = 1), malposition (n = 1), and syndactyly (n = 1). Nine fetuses with isolated limb abnormalities had normal NT, while 74.1% (20/27) of limb abnormalities that were associated with other abnormalities had increased NT.Conclusions This study demonstrates that the majority of limb abnormalities detected prenatally [23/28 (82%)] can be identified in the first trimester, especially major limb defects; however, our numbers are small and still need larger cases for further investigation.

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Upper Limb Phocomelia Associated With Increased Nuchal Translucency in a Monochorionic Twin Pregnancy

Cited by 11 publications

References 32 publications

Abnormal first-trimester fetal nuchal translucency and amniotic band syndrome

Abnormal first-trimester fetal nuchal translucency and amniotic band syndrome

First trimester ultrasonography in screening and detection of fetal anomalies

Routine screening for fetal limb abnormalities in the first trimester

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