Prenatal diagnosis of <i>de novo</i> terminal deletion of chromosome 7q

Chen, Chih‐Ping; Chern, Schu‐Rern; Chang, Tung-Yao; Tzen, Chin‐Yuan; Lee, Chen‐Chi; Chen, Wenlin; Lee, Meng-Shan; Wang, Wayseen

doi:10.1002/pd.602

Cited by 14 publications

(10 citation statements)

References 31 publications

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“…The parents' decision is important in emphasizing the significance of prenatal diagnosis and genetic counseling. In a very recent report, we noticed prenatal diagnosis of a 7q terminal deletion associated with markedly elevated maternal serum free ß-human chorionic gonadotropin [18]. The pregnancy was also terminated, like the current case.…”

Section: Discussionmentioning

confidence: 82%

Prenatal Diagnosis of a Partial Monosomy 7q11→q31 in a Fetus with Split Foot

Yılmaz

Eroğlu²,

Derbent³

et al. 2005

Fetal Diagn Ther

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Objective: A 27-year-old woman was referred to our laboratory for genetic counseling at 26 weeks of gestation due to abnormal ultrasound findings including intrauterine growth retardation, Dandy-Walker malformation and lower extremity anomalies. Methods: Chromosome analysis was performed on fetal blood sample obtained by cardiocentesis. Result: We observed an abnormal karyotype with a structural abnormality of the long arm of chromosome 7. Both parents’ chromosomes were normal; thus, the fetal karyotype designation was 46,XX, del(7)(pter→q11::q31→qter) de novo. Skin biopsy sample was taken to confirm the karyotype after therapeutic abortion was performed. The result was identical. Postmortem examination and autopsy showed facial dysmorphism, malformations of the lower extremities and central nervous system anomalies. Conclusion: 7q interstitial deletions cause a wide spectrum of congenital abnormalities and syndromes linked to the deleted segments. Our case had a rather wide chromosome region deleted and it is important, because prenatal diagnosis was performed. Thus, the family had the chance to evaluate the situation and decided to terminate the pregnancy after genetic counseling.

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Section: Discussionmentioning

confidence: 82%

Prenatal Diagnosis of a Partial Monosomy 7q11→q31 in a Fetus with Split Foot

Yılmaz

Eroğlu²,

Derbent³

et al. 2005

Fetal Diagn Ther

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“…Combined screening revealed a significantly diminished PAPP-A level (0.17 MoM) and a correspondingly high risk of DS (1: 50) which led to subsequent amniocyte karyotype evaluation. Chen et al [16] described a similar detection of a terminal chromosome 7q deletion, 46,XX,del(7)(q35), with the help of routine second-trimester DS screening. According to their report, 18 weeks' biochemical screening revealed a normal ␣ -fetoprotein level (1.026 MoM) but a markedly elevated free ␤ -hCG level (8.678 MoM) that led to a high risk of DS (1: 11) [16] .…”

Section: Discussionmentioning

confidence: 93%

“…Chen et al [16] described a similar detection of a terminal chromosome 7q deletion, 46,XX,del(7)(q35), with the help of routine second-trimester DS screening. According to their report, 18 weeks' biochemical screening revealed a normal ␣ -fetoprotein level (1.026 MoM) but a markedly elevated free ␤ -hCG level (8.678 MoM) that led to a high risk of DS (1: 11) [16] . Similarly to our case, the pregnancy was terminated.…”

Section: Discussionmentioning

confidence: 93%

“…In addition to the above findings, the fetus demonstrated increased NF thickness (7.3 mm). This is not surprising, as NF thickness greater than 6 mm is often associated with chromosomal defects, cardiac anomalies, infection or genetic syndromes [16] . From the prospective reproductive genetic counseling point of view, we informed this couple of the risk of fetal chromosomal abnormalities in the next pregnancy: 50% of chance will be normal (either normal karyotype or balanced translocation), and another 50% of chance will be unbalanced translocation and show an abnormal phenotype.…”

Section: Discussionmentioning

confidence: 99%

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Intermediate Interstitial Deletion of Chromosome 7q Detected by First-Trimester Down’s Syndrome Screening

et al. 2008

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We report a case of prenatally diagnosed chromosome 7q intermediate interstitial deletion with the aid of first-trimester Down’s syndrome (DS) screening. After detection of a significantly diminished maternal serum pregnancy-associated plasma protein A and correspondingly high DS risk, the pregnant woman underwent amniocentesis for fetal chromosomal analysis. Amniocytes revealed a 46,XY,del(7) (q21.2q31.1) karyotype and 21 weeks’ sonography revealed fetal growth restriction, elevated nuchal fold thickness and cardiomegaly. After therapeutic induction at 22 weeks of gestation, a 310-gram male fetus was born with multiple gross abnormalities including hypertelorism, wide nasal bridge, low-set ears, cleft palate, prominent cheeks, prominent nuchal skin, simian crease and postaxial polydactyly. We review the associated prenatal screening findings, the sonographic profile and phenotypical features associated with chromosome 7q intermediate interstitial deletion.

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“…We tested this subgroup because SHD might be part of a syndromal disorder, or associated with as yet unknown genetic defects [37] , which might interfere with growth. For example, several genetic defects like the 22q11 [38] or deletion of 7q [39] have only recently been identified. It seems of practical interest to note that in the present study the severely growth-retarded patients with CHD showed the same response to GH as all other patients born SGA.…”

Section: Discussionmentioning

confidence: 99%

Is the Response to Growth Hormone in Short Children Born Small for Gestational Age Dependent on Genetic or Maternal Factors?

Mehls

Lindberg²,

Bettendorf³

et al. 2009

Horm Res Paediatr

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differ in terms of Studentized residuals set up in the KIGS growth prediction model for SGA. Likewise, in a step-forward multivariate analysis, the variables Silver-Russell syndrome, congenital heart defects, infections of mothers and smoking were not identified as independent factors influencing growth velocity. Conclusion: The retrospectively analyzed genetic and maternal/environmental risk factors for SGA do not appear to explain the observed patient variance in response to GH. Larger prospective studies are needed, however, to substantiate these preliminary findings.

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Prenatal diagnosis of de novo terminal deletion of chromosome 7q

Abstract: Fetuses with a de novo 7q terminal deletion may be associated with a markedly elevated maternal serum hCG level and abnormal sonographic findings of intrauterine growth restriction, microcephaly, and congenital heart defects in the second trimester.

Cited by 14 publications

References 31 publications

Prenatal Diagnosis of a Partial Monosomy 7q11→q31 in a Fetus with Split Foot

Prenatal Diagnosis of a Partial Monosomy 7q11→q31 in a Fetus with Split Foot

Intermediate Interstitial Deletion of Chromosome 7q Detected by First-Trimester Down’s Syndrome Screening

Is the Response to Growth Hormone in Short Children Born Small for Gestational Age Dependent on Genetic or Maternal Factors?

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