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Biomedical subjects

P D Knott

Publications and source records attributed to P D Knott.

At least 19 recordsLinked to original sources

Ultrasound diagnosis of the Pena Shokeir phenotype at 14 weeks of pregnancy.

This report describes the early prenatal diagnosis of the Pena Shokeir phenotype in an at-risk patient at 14 weeks' gestation. The diagnosis was based on an abnormal fetal movement profile, in association with an abnormal position of the fetal limbs. Pena Shokeir phenotype describes an inherited condition characterized by arthrogryposis and dysmorphic features as a result of fetal akinesia. It is a lethal abnormality and early diagnosis allows safer surgical methods of termination.

Abnormalities, Multiple↗

Prenatal diagnosis of fetal glioblastoma multiforme.

Intracerebral tumours of the fetus are very rare conditions, most often presenting clinically as polyhydramnios and hydrocephalus. These conditions can be diagnosed with ultrasound and clearly differentiated from hydrocephalus and other intracranial lesions. The following report is of a case of an intracerebral tumour (glioblastoma multiforme) diagnosed at 33 weeks in utero using ultrasound. The prognosis for this condition is universally poor.

Adult↗

Changes in circulating alphafetoprotein and human chorionic gonadotrophin following chorionic villus sampling.

Chorionic villus sampling (CVS) is rapidly becoming established as a routine procedure for first-trimester fetal diagnosis. The technique can result in fetomaternal haemorrhage and this might sensitize Rhesus-negative mothers and on occasion lead to spontaneous abortion. Serial sampling indicates that there is a rapid rise in alphafetoprotein (AFP) levels following CVS; however, this is not reflected by raised levels at 16-18 weeks and does not influence the subsequent pregnancy outcome. Unlike AFP, alterations in hCG levels are small and variable. Anti-D prophylaxis for non-sensitized Rhesus negative mothers should be given after CVS and the procedure may be contra-indicated in patients who are already sensitized.

Chorionic Gonadotropin↗

Chorionic villus sampling in a high-risk population--4 years' experience.

Between August 1982 and July 1986 a total of 163 pregnancies in 136 patients with a high genetic risk have had prenatal diagnosis by chorionic villus sampling. Villi were not obtained in five pregnancies (two of which subsequently miscarried), and 11 fetal losses followed successful sampling (four in pregnancies in which the fetus was shown to be affected). The rate of fetal loss fell with increasing experience of the team. Three sets of twins were all sampled successfully.

Abortion, Spontaneous↗

Misdiagnosis of omphalocele associated with Edwards syndrome and congenital heart disease.

We present a case in which an apparent omphalocele, diagnosed at 30 weeks gestation by ultrasound, led to identification of fetal trisomy 18 and congenital heart disease. At delivery, the fetus had the features of trisomy 18 and congenital heart disease but the omphalocele was absent. We suggest that the appearances seen are easily confused with a small omphalocele and could potentially result in unnecessary further investigations being performed.

Adult↗

Can fetal gastroschisis always be diagnosed prenatally?

Fetal gastroschisis is regarded as a relatively straightforward ultrasound diagnosis. We report two cases of infants born with undiagnosed gastroschisis despite several detailed prenatal assessments following raised serum alphafetoprotein measurements. In both cases, the bowel was healthy with no evidence of long-term herniation through the abdominal wall and primary surgical correction was successful. Gastroschisis has previously been classified as 'antenatal' and 'perinatal', and we conclude that the latter type is not always possible to diagnose prenatally.

Abdominal Muscles↗

Effect of chorionic villus sampling and early pregnancy counselling on uptake of prenatal diagnosis.

An early pregnancy counselling clinic was introduced to improve the uptake of prenatal diagnosis and to offer chorionic villus sampling to women aged 38 and over by their expected date of delivery. Ninety eight (62%) unselected older mothers were seen before 11 weeks' gestation, and 23 (32%) of those with viable pregnancies elected to undergo chorionic villus sampling compared with 38 (52%) electing amniocentesis. A quarter of the patients booking before 11 weeks had a miscarriage. Because of the future potential demand for chorionic villus sampling counselling during pregnancy and referral of eligible patients should occur as early as possible.

Adult↗

Uptake of amniocentesis in women aged 38 years or more by the time of the expected date of delivery: a two-year retrospective study.

The uptake of amniocentesis for the prenatal diagnosis of chromosome abnormalities in older women (greater than or equal to 38 years by the time of the expected date of delivery) is reviewed over a 2-year period. Overall, 41.3% of women were not tested, including a group of 7% in whom no record of discussion of prenatal diagnosis could be found on review of obstetric records. Refusal of the offer of amniocentesis and late booking were significantly greater in Asian women (P less than 0.01). One-third of chromosomally-abnormal infants were not detected antenatally in the study group.

Adult↗