Pregnancies resulting from embryos biopsied for preimplantation diagnosis of genetic disease: Biochemical and ultrasonic studies in the first trimester of pregnancy

Soussis, I.; Harper, Joyce; Kontogianni, E.; Paraschos, I Thanos; Packham, Dina; Handyside, Alan H.; Winston, R. M. L.

doi:10.1007/bf02065946

Cited by 16 publications

(8 citation statements)

References 18 publications

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“…Early pregnancy monitoring included serial serum hCG measurements and ultrasound scans at 28 and 42 days after insemination which corresponds to a menstrual age of six and eight weeks 13 . The women were offered the choice of continuing their antenatal care at the Hammersmith Hospital or returning to their obstetricians.…”

Section: Methodsmentioning

confidence: 99%

“…More recently techniques such as cryo‐preservation and intracytoplasmic sperm injection (ICSI) have also led to normal obstetric outcomes 12 . We have reported early pregnancy measurements such as serum hCG and progesterone and ultrasound measurements for pregnancies resulting from embryo biopsy and pre‐implantation diagnosis within the normal range 13 . However, even though 29 infants have been born worldwide, there is sparse information on the obstetric outcome of pregnancies resulting from embryo biopsy and pre‐implantation diagnosis.…”

Section: Introductionmentioning

confidence: 99%

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Obstetric outcome of pregnancies resulting from embryos biopsied for pre‐implantation diagnosis of inherited disease

Soussis

Harper

Handyside

et al. 1996

BJOG

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Objective Pre‐implantation diagnosis of inherited disease is now a viable option for some couples at risk of transmitting inherited disorders to their children. Since the pregnancy begins knowing that the embryo is not at risk, the need for repeated terminations is eliminated. Up to 25 % of the embryo is removed during the procedure, and so it is important to study the resulting pregnancies. Here we report on the obstetric outcome of our first 16 pregnancies resulting from embryo biopsy and preimplantation diagnosis of inherited disease. Setting Teaching hospital. Sample The first 16 pregnancies (12 singletons and 4 twins) following pre‐implantation diagnosis. Results Three singleton pregnancies were lost in the first trimester. Of the remaining pregnancies, two had no prenatal diagnosis, six cases of X‐linked disease had the sex confirmed by ultrasound and chorionic villus sampling was performed in the remaining five. All the singleton pregnancies had an uneventful antenatal course and the birthweights and Apgar scores of the babies were normal. The twin pregnancies presented obstetric complications but these were not unusual. Conclusions Fifteen healthy infants were born, but for the foreseeable future pre‐implantation diagnosis pregnancies should be closely followed up.

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Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Obstetric outcome of pregnancies resulting from embryos biopsied for pre‐implantation diagnosis of inherited disease

Soussis

Harper

Handyside

et al. 1996

BJOG

Self Cite

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“…Couples at risk of having affected children face the risk associated with prenatal diagnostic procedures and the difficult decision of whether to continue with an affected pregnancy. Some couples repeatedly terminate pregnancies in an attempt to have a normal child [15]. For these couples, preimplantation genetic diagnosis (PGD) provides an alternative reproductive option.…”

Section: Preimplantation Genetic Diagnosismentioning

confidence: 99%

Prenatal diagnosis and preimplantation genetic diagnosis: novel technologies and state of the art of PGD in different regions of the world

2011

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Prenatal diagnosis (PND) aims to provide accurate, rapid results as early in pregnancy as possible. Conventional PND involves sampling cells of foetal origin by chorionic villus sampling at 11-14th weeks of pregnancy or amniocentesis after 15th week. These are invasive procedures and have a small but significant rate of 0.5% to 1% for loss of pregnancy. An alternative to existing methods for conventional PND for couples at risk of transmitting a genetic disease to their child is preimplantation genetic diagnosis (PGD). PGD is a newly emerging form of a very early prenatal diagnosis. The technique combines assisted reproductive technology with molecular genetics and cytogenetics to allow the identification of abnormality in embryos prior to implantation. The diagnosis of genetic disease in human preimplantation embryos was pioneered in the late 1980s for testing of aneuploidy, single gene and X-linked disease, such as cystic fibrosis, haemophilia and chromosomal abnormalities. The PGD-related legal and ethical issues have been debated at many levels both nationally and internationally. The attitude towards PGD varies substantially not only in different parts of the world but also within the Europe, owing to scientific, cultural and religious differences. PGD has become widely practised throughout the world for various indications and can substantially decrease the eventual risks of passing a genetic undesired condition of the offspring. Nevertheless, its extension to some new and non-medical indications has raised ethical concerns, in particular its potential eugenic dimension.

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“…Couples at risk of having affected children face the risks associated with these diagnostic procedures and the difficult decision of whether to continue with an affected pregnancy. Some couples repeatedly terminate pregnancies in an attempt to have a normal child [2,3]. As an alternative to conventional prenatal diagnosis, PGD has the advantage that by selecting only those embryos identified as unaffected for replacement in the uterus, couples know from the beginning that any pregnancy should be unaffected by the genetic condition carried in that family, eliminating the need for prenatal diagnosis and termination of pregnancy.…”

Section: Introductionmentioning

confidence: 99%

Preimplantation genetic diagnosis: new reproductive options for carriers of haemophilia

Lavery

2004

Haemophilia

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Preimplantation genetic diagnosis for haemophilia offers couples at risk for transmitting the condition the opportunity to embark on a pregnancy knowing that the embryo is unaffected by the disease. The technique aims to increase the range of reproductive options available to these couples and remove the need for invasive prenatal diagnosis and the difficult decision on whether to terminate an affected pregnancy. This aims to reduce the anxiety associated with reproduction often seen in these couples. Patients undergo a cycle of in vitro fertilization followed by embryo biopsy. The single blastomeres are then analysed using fluorescent in situ hybridization to detect the sex of the embryo, and only female embryos are transferred to the uterus. Recently a PCR based approach has allowed specific mutation detection, and therefore the transfer of unaffected male and female embryos.

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Pregnancies resulting from embryos biopsied for preimplantation diagnosis of genetic disease: Biochemical and ultrasonic studies in the first trimester of pregnancy

Abstract: Pregnancies resulting from biopsied embryos behave similarly to control IVF pregnancies. However, the reduction in cell mass following embryo biopsy occasionally results in reduced levels of circulating serum hCG and smaller ultrasound measurements in early pregnancy.

Cited by 16 publications

References 18 publications

Obstetric outcome of pregnancies resulting from embryos biopsied for pre‐implantation diagnosis of inherited disease

Obstetric outcome of pregnancies resulting from embryos biopsied for pre‐implantation diagnosis of inherited disease

Prenatal diagnosis and preimplantation genetic diagnosis: novel technologies and state of the art of PGD in different regions of the world

Preimplantation genetic diagnosis: new reproductive options for carriers of haemophilia

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