Selective chromosome analysis in couples with two or more miscarriages: case-control study

Franssen, Maureen; Korevaar, Johanna C.; Leschot, N. J.; Bossuyt, Patrick M.; Knegt, Alida C.; Gerssen-Schoorl, Klasien B. J.; Wouters, Carine; Hansson, Kerstin; Hochstenbach, Ron; Madan, K.; Veen, Fulco van der; Goddijn, Mariëtte

doi:10.1136/bmj.38498.669595.8f

Cited by 124 publications

(95 citation statements)

References 15 publications

(12 reference statements)

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“…The reproductive outcomes of the 18 carriers are shown in Table 3 in RPL couples was 5.04%. Previous studies have reported the incidence of these abnormalities and polymorphisms at 3-6% (Tharapel et al, 1985;De Braekeleeret and Dao, 1990;Clifford et al, 1994;Franssen et al, 2005). Among the 2720 RPL couples, 2.24% of carriers had chromosome abnormalities and 2.80% had polymorphisms.…”

Section: Resultsmentioning

confidence: 99%

Reproductive outcomes in recurrent pregnancy loss associated with a parental carrier of chromosome abnormalities or polymorphisms

Dong¹,

Li²,

Wang³

et al. 2014

Genet. Mol. Res.

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ABSTRACT. The subsequent reproductive outcomes in couples with a history of recurrent pregnancy loss (RPL) associated with chromosome abnormalities or polymorphisms are generally not reported in China. Many RPL carrier couples have decided not to have children. The present study recorded the subsequent delivery, miscarriage, and unpregnancy outcomes of 113 RPL carrier couples and 226 non-carrier couples, and compared differences in reproductive outcomes between couples with different types of chromosome abnormalities or polymorphisms and chromosome normal couples. Our results showed that couples with RPL associated with parental chromosome abnormalities or polymorphisms did not have significantly lower live birth rates than non-carrier couples in China. These results suggest the current guidance given to Chinese RPL couples.

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Section: Resultsmentioning

confidence: 99%

Reproductive outcomes in recurrent pregnancy loss associated with a parental carrier of chromosome abnormalities or polymorphisms

Dong¹,

Li²,

Wang³

et al. 2014

Genet. Mol. Res.

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“…RM is a highly heterogenic condition; to strive for more homogeneity, in the present study we only included women who had their third consecutive miscarriage below the age of 31. A younger age at diagnosis makes a maternal cause of RM more plausible and reduces the chance of miscarriages due to fetal abnormalities 30. Another strength is the availability of a wide range of covariates in both groups (Table 1).…”

Section: Discussionmentioning

confidence: 99%

Increased cardiovascular disease risk in women with a history of recurrent miscarriage

Wagner

Beshay

Rooijakkers

et al. 2018

Acta Obstet Gynecol Scand

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IntroductionCardiovascular disease is the leading cause of death in women. Observational studies suggest that women with a history of recurrent miscarriage have an increased risk of cardiovascular disease.Material and methodsWomen who visited the recurrent miscarriage clinic at Leiden University Medical Center between 2000 and 2010 and who had their third consecutive miscarriage before the age of 31 years, were invited to participate in this follow‐up study (between 2012 and 2014). The reference group consisted of women with at least one uncomplicated pregnancy and no miscarriage, matched by zip code, age, and date of pregnancy. All women were invited for risk factor screening, including physical examination and blood collection. Main outcome measures were the (extrapolated) 10‐ and 30‐year cardiovascular risk scores using the Framingham risk score. A subanalysis was performed for women with idiopathic recurrent miscarriage.ResultsThirty‐six women were included in both groups. Mean follow up was 7.5 years. Women with recurrent miscarriage had a significantly higher extrapolated 10‐year cardiovascular risk score (mean 6.24%, SD 5.44) compared with women with no miscarriage (mean 3.56%, SD 1.82, P = .007) and a significantly higher 30‐year cardiovascular risk score (mean 9.86%, SD 9.10) compared with women with no miscarriage (mean 6.39%, SD 4.20, P = .04). Similar results were found in women with idiopathic recurrent miscarriage (n = 28).ConclusionsWomen with a history of recurrent miscarriage differ in cardiovascular risk profile at a young age compared with women with no miscarriage. The findings support an opportunity to identify women at risk of cardiovascular disease later in life and a possible moment for intervention.

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“…In general, the incidence of chromosomal abnormalities is higher in women than in men (11,16), possibly because abnormalities compatible with fertility in females may be associated with sterility in males (9,16,17).…”

Section: Discussionmentioning

confidence: 99%

“…Such balanced translocations account for the largest percentage of karyotypic abnormalities (9). The clinical consequences of such abnormal gametes include repeated abortions, stillbirth, and birth of malformed children and mentally handicapped children (10).…”

Section: Discussionmentioning

confidence: 99%

Structural chromosomal abnormalities in couples with recurrent abortion in Egypt

Gaboon¹,

Mohamed²,

Elsayed³

et al. 2015

Turk J Med Sci

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Background/aim: To evaluate the incidence of chromosomal abnormalities in couples who experience recurrent abortion and identify additional factors that may be predictive of abortion, such as parental age and unfavorable obstetric or abnormal semen analysis. Materials and methods:The present study examined 125 couples who had experienced recurrent abortion. All subjects provided a detailed personal medical history and ancestral history and underwent a physical examination. Women in the study group underwent biochemical testing and pelvic ultrasound examinations, and men underwent a semen analysis.Results: Among the 125 couples tested, 8 couples (6.4%) displayed a balanced translocation, among which 7 (5.6%) showed a reciprocal translocation and 1 (0.8%) showed a Robertsonian translocation. All carriers of these translocations were aged <35 years. A significant proportion of carriers reported a poor obstetric history and a past fetal malformation. All male carriers had a normal semen analysis. Conclusion:Couples who experience ≥2 pregnancy losses of unknown origin should undergo a cytogenetic analysis, and findings showing a chromosomal abnormality in either parent must be followed by genetic counseling.

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Selective chromosome analysis in couples with two or more miscarriages: case-control study

Cited by 124 publications

References 15 publications

Reproductive outcomes in recurrent pregnancy loss associated with a parental carrier of chromosome abnormalities or polymorphisms

Reproductive outcomes in recurrent pregnancy loss associated with a parental carrier of chromosome abnormalities or polymorphisms

Increased cardiovascular disease risk in women with a history of recurrent miscarriage

Structural chromosomal abnormalities in couples with recurrent abortion in Egypt

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