G. H. Schuring-Blom

Academic Medical Center

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N. J. Leschot

Academic Medical Center

G. C. M. L. Christiaens

University Medical Center Utrecht

A. C. van Prooijen‐Knegt

University of Amsterdam

Diane Van Opstal

Erasmus MC

M. Verjaal

University of Amsterdam

Hans Wolf

University of Amsterdam

Humphrey H.H. Kanhai

Leiden University Medical Center

Joop S.E. Laven

Erasmus MC

Klaske D. Lichtenbelt

University Medical Center Utrecht

Jennie M. Pater

Duquesne University

Cooperative Institutions

University of Amsterdam

Valencian Infertility Institute

Academic Medical Center

Inserm

Vrije Universiteit Brussel

University Medical Center Utrecht

Amsterdam University Medical Centers

Universitair Ziekenhuis Brussel

Erasmus MC

Universitat de València

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Implementing NIPT as part of a national prenatal screening program: The Dutch TRIDENT studies

European Journal of Human Genetics (2019)

Maren Weiss Robert‐Jan H. Galjaard E. A. Sistermans Caroline J. Bax M. N. Bekker

Trident

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Citations (0)

THE OUTCOME OF PREGNANCIES WITH CONFINED PLACENTAL CHROMOSOME MOSAICISM IN CYTOTROPHOBLAST CELLS

Prenatal Diagnosis (1996)

N. J. Leschot G. H. Schuring-Blom A. C. van Prooijen‐Knegt M. Verjaal Kerstin Hansson

Cytogenetic findings and outcome of pregnancy are reported in 108 cases in which confined placental mosaicism (CPM, n = 101) or generalized mosaicism (n = 7) was found at or after first-trimester chorionic villus sampling. In all samples, a (semi)direct cytogenetic analysis of cytotrophoblast cells was performed. Two pregnancies with CPM ended in a spontaneous abortion before 28 weeks (1.9 per cent). In 15 cases the pregnancy was terminated: eight cases were shown to be examples of CPM; seven cases can be considered as examples of generalized mosaicism. A normal cytogenetic result was obtained after follow-up amniocentesis in 88 of the remaining 91 cases. In three cases, no amniocentesis was performed but confirmation of a normal karyotype was obtained in other cells. One of the 91 pregnancies was nevertheless terminated for psychosocial reasons. One child died perinatally and another on the seventh day after birth. The birth weight is known for 89 children; the curve shows a normal distribution. In 11 of these children (12.3 per cent), the birth weight was found to be below the tenth centile. The outcome in a subgroup of eight pregnancies with CPM and involvement of chromosome 13, 16, or 22, however, revealed two fetal losses and four children with a birth weight below the tenth centile (75 per cent).

Amniocentesis

Chorionic villus sampling

Cytotrophoblast

10.1002/(sici)1097-0223(199608)16:8<705::aid-pd930>3.0.co;2-6

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Citations (32)

Trisomy 8 in chorionic villi?unpredictable results in follow-up

Prenatal Diagnosis (2000)

Jennie M. Pater G. H. Schuring-Blom Marlëlle A. Nieste‐Otter B. van Nesselrooij Berber Kapitein

Medical genetics

Trisomy

10.1002/(sici)1097-0223(200005)20:5<435::aid-pd823>3.0.co;2-q

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Citations (7)

Could confined placental mosaicism account for adverse perinatal outcomes in IVF pregnancies

Reproductive Sciences (2008)

Benoit Jacod G. H. Schuring-Blom Klaske D. Lichtenbelt Joop S.E. Laven Diane Van Opstal

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Citations (0)

Cytogenetic findings in 1250 chorionic villus samples obtained in the first trimester with clinical follow‐up of the first 1000 pregnancies

BJOG An International Journal of Obstetrics & Gynaecology (1989)

N. J. Leschot Hans Wolf A. C. van Prooijen‐Knegt C. J. van Asperen M. Verjaal

Summary. First‐trimester chorionic villus sampling (CVS) was performed in a series of 1250 pregnancies. The direct method of karyotyping was successful in 1205 (96.4%). Abnormal laboratory findings resulted in 60 terminations of pregnancy (4.8%). In addition, six unexpected balanced chromosome rearrangements were detected. False‐positive cytogenetic findings occurred in 2.3%, comprising 22 with mosaicism confined to the trophoblast, and a further six non‐mosaic false‐positive discrepancies were detected, four after termination of pregnancy. The outcome of the first 1000 pregnancies is known in all but one. There were no false‐negative findings. Of 947 pregnancies meant to be continued, 34 (3.6%) ended in pregnancy loss before 28 weeks gestation. However, obstetricians with an experience of over 150 procedures had a pregnancy loss of 1.3%.

Chorionic villus sampling

Chorionic villi

Products of conception

10.1111/j.1471-0528.1989.tb03280.x

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Citations (45)

MATERNAL UNIPARENTAL DISOMY FOR CHROMOSOME 22 IN A CHILD WITH GENERALIZED MOSAICISM FOR TRISOMY 22

Prenatal Diagnosis (1997)

Jennie M. Pater G. H. Schuring-Blom R. van den Bogaard C. J. M. van der Sijs‐Bos G. C. M. L. Christiaens

We report on a case of generalized mosaicism for trisomy 22.At chorionic villus sampling (CVS) in the 37th week of pregnancy, a 47,XX,+22 karyotype was detected in all cells.The indication for CVS was severe unexplained symmetrical intrauterine growth retardation (IUGR) and a ventricular septal defect (VSD) was noted.In cultured cells from amniotic fluid taken simultaneously, only two out of ten clones were trisomic.At term: a growth-retarded girl with mild dysmorphic features was born.Lymphocytes showed a normal 46,XX[50] karyotype; both chromosomes 22 were maternal in origin (maternal uniparental disomy).Investigation of the placenta post-delivery using fluorescence in situ hybridization showed a low presence of trisomy 22 cells in only one out of 14 biopsies.In cultured fibroblasts of skin tissue, a mosaic 47,XX, +22[7]/46,XX [25] was observed.Clinical follow-up is given up to 19 months.

Uniparental disomy

Trisomy

Chorionic villus sampling

Chorionic villi

Amniocentesis

10.1002/(sici)1097-0223(199701)17:1<81::aid-pd29>3.0.co;2-v

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Citations (31)

Posters * Embryology (Embryo Selection)

Human Reproduction (2010)

Karen Versieren B. Heindryckx C. Qian Jan Gerris Petra De Sutter

Embryology

10.1093/humrep/de.25.s1.140

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Citations (2)

THE OUTCOME OF PREGNANCIES WITH CONFINED PLACENTAL CHROMOSOME MOSAICISM IN CYTOTROPHOBLAST CELLS

Prenatal Diagnosis (1996)

N. J. Leschot G. H. Schuring-Blom A. C. van Prooijen‐Knegt M. Verjaal Kerstin Hansson

Cytogenetic findings and outcome of pregnancy are reported in 108 cases in which confined placental mosaicism (CPM, n=101) or generalized mosaicism (n=7) was found at or after first-trimester chorionic villus sampling. In all samples, a (semi)direct cytogenetic analysis of cytotrophoblast cells was performed. Two pregnancies with CPM ended in a spontaneous abortion before 28 weeks (1·9 per cent). In 15 cases the pregnancy was terminated: eight cases were shown to be examples of CPM; seven cases can be considered as examples of generalized mosaicism. A normal cytogenetic result was obtained after follow-up amniocentesis in 88 of the remaining 91 cases. In three cases, no amniocentesis was performed but confirmation of a normal karyotype was obtained in other cells. One of the 91 pregnancies was nevertheless terminated for psychosocial reasons. One child died perinatally and another on the seventh day after birth. The birth weight is known for 89 children; the curve shows a normal distribution. In 11 of these children (12·3 per cent), the birth weight was found to be below the tenth centile. The outcome in a subgroup of eight pregnancies with CPM and involvement of chromosome 13, 16, or 22, however, revealed two fetal losses and four children with a birth weight below the tenth centile (75 per cent).

Amniocentesis

Chorionic villus sampling

Cytotrophoblast

10.1002/(sici)1097-0223(199608)16:8<705::aid-pd930>3.3.co;2-y

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Citations (1)

Trisomy 13 or 18 (mosaicism) in first trimester cytotrophoblast cells: false-positive results in 11 out of 51 cases

European Journal of Obstetrics & Gynecology and Reproductive Biology (2002)

G. H. Schuring-Blom Kees Boer Alida C. Knegt Marjan Verjaal N. J. Leschot

Trisomy

Amniocentesis

Chorionic villus sampling

Cytotrophoblast

10.1016/s0301-2115(00)00542-x

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Citations (5)

Pregnancy: Cytogenetic characteristics of ectopic pregnancy

Human Reproduction (1996)

Mariëtte Goddijn Fulco van der Veen G. H. Schuring-Blom W.M. Ankum N. J. Leschot

During a 12 month period, tissue was collected from 30 surgically managed patients presenting with vital ectopic pregnancies. Chorionic villi of the removed tissue were successfully karyotyped by (semi-) direct chromosome technique in 22 cases. Only one abnormal chromosomal complement, a triploidy (69,XXX) was found. As controls, 10 cases of intrauterine pregnancies were investigated, all showing a normal karyotype. These findings do not suggest an important role for chromosome abnormalities in the aetiology of vital ectopic pregnancies.

Chorionic villi

Etiology

Chromosomal analysis

10.1093/oxfordjournals.humrep.a019207

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Citations (28)