Mid-Trimester Genetic Amniocentesis in Twin Pregnancy and the Risk of Fetal Loss

Millaire, Mélanie; Bujold, Emmanuel; Morency, Anne‐Maude; Gauthier, Robert

doi:10.1016/s1701-2163(16)32171-5

Cited by 60 publications

(53 citation statements)

References 12 publications

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“…Although Pompe disease can be diagnosed prenatally by various methods (Fowler et al 2007;Hug et al 1984;Kishnani et al 2006b;Kleijer et al 1995;Phupong et al 2005), these invasive techniques may only be available in certain centres, and carry the risk of abortion, oligohydramnios, premature labour, and fetal loss (Millaire et al 2006;Odibo et al 2008). FE is a noninvasive and readily available method that can diagnose more than 90% of congenital heart defects (Allan 2000).…”

Section: Discussionmentioning

confidence: 99%

“…Prenatal diagnosis of Pompe disease was reported through enzyme assay, mutation analysis, or electron microscopy of amniotic fluid cells or chorionic villus sample (Fowler et al 2007;Hug et al 1984;Kleijer et al 1995;Phupong et al 2005). However, these techniques are only available in certain centers, and carry the risk of fetal loss, especially in twin gestation (Millaire et al 2006;Odibo et al 2008). It is currently unknown whether initiating ERT at birth for prenatally diagnosed infants would alter the long-term outcome.…”

Section: Introductionmentioning

confidence: 99%

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Early administration of enzyme replacement therapy for Pompe disease: Short‐term follow‐up results

Hamdan

Almalik

Mirghani

2008

J of Inher Metab Disea

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Pompe disease (glycogen storage disease II, OMIM # 232300), is a hereditary lysosomal disorder. It is characterized by deficiency of acid alpha-glucosidase enzyme (acid maltase, GAA, OMIM *606800, EC 3.1.26.2), secondary to mutations in the GAA gene (HGNC:4065) on chromosome 17q25.2-q25.3. Absent enzyme activity in the infantile form of Pompe disease results in abnormal glycogen deposition in the skeletal, cardiac, and smooth muscles, leading to hypertrophic cardiomyopathy, feeding abnormalities, hypotonia, weakness, respiratory insufficiency, and ultimately death. Prenatal diagnosis is accomplished by enzyme assay, mutation analysis or electron microscopy of amniotic fluid cells or chorionic villus sample. However, these techniques may not always be available, and can result in perinatal morbidity and fetal loss. Early diagnosis of Pompe disease results in early institution of enzyme replacement therapy (ERT), which minimizes morbidity and prolongs survival. We report the case of a 35-week part-of-twin neonate, whose older sibling died earlier because of infantile Pompe disease. At 32 weeks of gestation, fetal echocardiography showed hypertrophic cardiomyopathy in twin 1, which persisted until birth at 35 weeks of gestation. Diagnosis was confirmed after birth by enzyme assay, and mutation analysis showing homozygosity for the sequence change 1327-2A>G (GAA intr 8). Administration of ERT at 18 h of age, resulted in normalization of cardiac abnormalities within 21 weeks of therapy, and normal neurodevelopmental assessment at 46 weeks, using Griffiths Mental Development Scales. To our knowledge, this is the youngest patient reported to receive ERT for Pompe disease, and the first report of prenatal diagnosis of Pompe disease by fetal echocardiography.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Early administration of enzyme replacement therapy for Pompe disease: Short‐term follow‐up results

Hamdan

Almalik

Mirghani

2008

J of Inher Metab Disea

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“…A very similar estimate was, however, reported by Cahill et al [24] in a series of 311 amniocenteses in twin pregnancies. A meta-analysis of 2,026 women with twin pregnancies having amniocentesis concluded that the risk of fetal loss was significantly increased, with an OR of 2.42 (95% CI 1.24-4.74) [27] .…”

Section: Multiple Pregnanciesmentioning

confidence: 99%

Update on Procedure-Related Risks for Prenatal Diagnosis Techniques

2009

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Introduction: As a consequence of the introduction of effective screening methods, the number of invasive prenatal diagnostic procedures is steadily declining. The aim of this review is to summarize the risks related to these procedures. Material and Methods: Review of the literature. Results: Data from randomised controlled trials as well as from systematic reviews and a large national registry study are consistent with a procedure-related miscarriage rate of 0.5–1.0% for amniocentesis as well as for chorionic villus sampling (CVS). In single-center studies performance may be remarkably good due to very skilled operators, but these figures cannot be used for general counselling. Amniocentesis performed prior to 15 weeks had a significantly higher miscarriage rate than CVS and mid-trimester amniocentesis, and also increased the risk of talipes equinovarus. Amniocentesis should therefore not be performed before 15 + 0 weeks’ gestation. CVS on the other hand should not be performed before 10 weeks’ gestation due to a possible increase in risk of limb reduction defects. Discussion: Experienced operators have a higher success rate and a lower complication rate. The decreasing number of prenatal invasive procedures calls for quality assurance and monitoring of operators’ performance.

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“…46 A recent study calculated the risk of pregnancy loss before 24 weeks' gestation to be one in 64 or 1.6%. 20 When a twin pregnancy follows fetal reduction of a higher order multiple pregnancy, amniocentesis does not seem to carry a greater risk of pregnancy loss than exists in higher order multiple pregnancies that undergo fetal reduction but no amniocentesis (total loss rate 8.1 vs 12.5%; no statistical difference). 47,48 In a review of four studies with a total of 614 twin pregnancies undergoing CVS, the overall loss rate before 22 weeks was reported at 3.1%, with a total loss rate (up to delivery) of about 4.8%.…”

Section: Pregnancy or Fetal Loss Ratementioning

confidence: 96%

“…Millaire et al studied 45 monochorionic twin pregnancies who underwent amniocentesis for different reasons and found no fetal loses in these cases. 20 Cahill et al reported an almost 6 times higher loss rate for the monochorionic twins that underwent amniocentesis (26 cases) compared to monochorionic pregnancies that did not have an amniocentesis (295 cases). 21 However, the sample of mono chorionic twins that underwent amniocentesis and was included in the study was limited.…”

mentioning

confidence: 99%

Invasive Procedures in Monochorionic Twins

Antsaklis¹,

Antsaklis²

2015

Donald School Journal of Ultrasound in Obstetrics and Gynecology

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Monochorionic twin pregnancies (MC) are less frequent but they are considered higher risk pregnancies compared to dichorionic pregnancies. As a result, determining the chorionicity of a twin pregnancy is of vital importance for the surveillance and management of the pregnancy. The problem originates from the fact that monochorionic twins have one placenta, and as a result the circulation of the two fetuses is closely related to each other mainly through anastomosis of the placenta. The number and type of anastomosis is of great importance for the course of the pregnancy. Diagnosis of chromosomal abnormalities in such pregnancies requires excellent knowledge of invasive procedures and good clinical skills. Monochorionic twins are at increased risk for unique complications including twin-to-twin transfusion syndrome (TTTS), selective intrauterine growth restriction (sIUGR), and twin-reversed arterial perfusion (TRAP) sequence. Twin-to-twin transfusion syndrome is a very well known and described complication of mono chorionic twin pregnancies and must be considered and checked in each monochorionic pregnancy. Selective feticide is not a method used very commonly in MC pregnancies, but may be applied in selected cases. For TTTS laser treatment of the anastomosis is a method of choice, but should be performed in centers with experience.

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Mid-Trimester Genetic Amniocentesis in Twin Pregnancy and the Risk of Fetal Loss

Cited by 60 publications

References 12 publications

Early administration of enzyme replacement therapy for Pompe disease: Short‐term follow‐up results

Early administration of enzyme replacement therapy for Pompe disease: Short‐term follow‐up results

Update on Procedure-Related Risks for Prenatal Diagnosis Techniques

Invasive Procedures in Monochorionic Twins

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