Chromosome Analysis before Birth and its Value in Genetic Counselling

Ferguson-Smith, M. E.; Ferguson‐Smith, M. A.; Nevin, N. C.; Stone, Malcolm

doi:10.1136/bmj.4.5779.69

Cited by 33 publications

(5 citation statements)

References 24 publications

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“…3 Genetic amniocentesis for prenatal detection of chromosomal abnormalities was until recently performed mainly for the detection of Down syndrome, with the earliest reports published around 1971. 4 More rarely, amniocentesis was performed for the detection of the inherited conditions Pompe's disease, cystic fibrosis, and mucopolysaccharidosis. 5 In 1956, Tjio first reported that human cells had 46 chromosomes, 6 and subsequently, Lejeune and Turpin first showed that Down syndrome was associated with an extra copy of chromosome 21.…”

Section: Historical Backgroundmentioning

confidence: 99%

Prenatal Screening and Diagnosis: Time for a Paradigm Shift

Oyelese,

Schioppo,

O'Brien

2024

Am J Perinatol

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Recent advances in genetics and imaging have ushered in substantial breakthroughs in screening and diagnosis for chromosomal and structural abnormalities. Thus, it is imperative that healthcare providers caring for pregnant individuals should re-examine established practices in prenatal screening and diagnosis. In the past, screening for chromosomal abnormalities was based almost entirely on Down syndrome. Pregnant individuals aged > 35 were considered at “high risk” or of “advanced maternal age” based on age alone; however, the advent of tests with high sensitivity for prenatal detection of chromosomal abnormalities should lead to abandoning that concept, at least from the perspective of chromosomal abnormalities. Given that first-trimester and second-trimester screening will fail to detect between 5 and 20% of Down syndrome, in most situations, non-invasive testing with cell-free DNA should be the first-line screen for Down syndrome. The fact that over 99% of fetuses with Down syndrome will be detected prenatally with cell-free DNA gives other fetal chromosomal and structural abnormalities increasing prominence. Chromosomal microarray analysis (CMA) permits prenatal detection of several clinically important chromosomal aberrations that cannot be detected by karyotype and may exist in structurally normal fetuses with low-risk cell-free DNA screening. As such, CMA should be more readily conducted when invasive testing is performed, regardless of the presence of a structural abnormality. Isolated sonographic “soft markers” have no clinical significance in patients who have normal cell-free DNA screening, can cause unwarranted anxiety and a negative impact on pregnancy, and perhaps it is time to stop discussing them. Detailed first-trimester ultrasound allows early detection of several severe fetal anomalies, and therefore in settings with adequately trained personnel and resources, should be used more frequently. This Opinion traces the evolution of prenatal screening and diagnosis and advocates for a paradigm shift that aligns with recent developments in prenatal screening and diagnostic capabilities.

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Section: Historical Backgroundmentioning

confidence: 99%

Prenatal Screening and Diagnosis: Time for a Paradigm Shift

Oyelese,

Schioppo,

O'Brien

2024

Am J Perinatol

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“…Sample A was slightly blood stained, Sample B was clear. The method for setting up the amniotic fluid cell cultures was a modification from one previously described (Ferguson-Smith et al 1971): 4 ml of fluid were removed from Sample B for nuclear sexing, the remainder was centrifuged at 180 g for 20 min. Half of the supernatant was removed and replaced with Ham's F10 medium with 30 % foetal calf serum, penicillinistreptomycin and glutamine.…”

Section: Amniotic Cell Culturementioning

confidence: 99%

Prenatal diagnosis and family studies in a case of propionicacidaemia

et al. 1975

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In a family with a history of two neonatal deaths, propionicacidaemia was diagnosed retrospectively from stored plasma as the cause of the second death during the mother's next pregnancy. Amniocentesis was performed and a culture of amniotic cells was assayed for propionyl CoA carboxylase activity. The absence of any detectable propionyl CoA carboxylase activity allowed the prenatal diagnosis of propionicacidaemia to be made. Treatment with biotin and a modified aminoacid diet was started in the immediate postnatal period. Investigation of propionyl CoA carboxylase in leucocytes from the parents, siblings and other relations of the patient failed to demonstrate intermediate enzyme activities in even the parents, who were presumably heterozygotes for this condition.

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“…In practice, tlic results indicate therapeutic termination of pregnancy in relatively few cases. In a series investigated by Ferguson-Smith et al (1971) chromosome analysis of amniotic cell cultures was achieved in 29 out of 30 consecutivc patients referred for genetic counselling during pregnancy; chromosome analysis i n 28 patients showed a normal karyotype, the oiily pregnancy tcrminated was that of a carrier of X-linked granulomatous disease, in whom the amniotic cells showed that the foetus was male and also had mongolism (trisomy G).…”

Section: Pre-natal Diagnosis Bv Amniocentesisan Extension Of Geneticamentioning

confidence: 99%

The genetic aspects of mental handicap: tell parents the facts!

Cowie

1973

Journal of the Institute of Mental Subnormality (APEX)

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Chromosome Analysis before Birth and its Value in Genetic Counselling

Cited by 33 publications

References 24 publications

Prenatal Screening and Diagnosis: Time for a Paradigm Shift

Prenatal Screening and Diagnosis: Time for a Paradigm Shift

Prenatal diagnosis and family studies in a case of propionicacidaemia

The genetic aspects of mental handicap: tell parents the facts!

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