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L S Chitty

Publications and source records attributed to L S Chitty.

At least 19 recordsLinked to original sources
PubMed2003

Accuracy of antenatal fetal ultrasound in the diagnosis of duplex kidneys.

OBJECTIVES: To assess the accuracy of ultrasound diagnosis of duplex kidneys in the fetus and to identify prognostic features of antenatal sonography associated with this diagnosis. METHODS: Retrospective identification of cases with an antenatal diagnosis of duplex kidney was made from computerized databases. Results of postnatal radiological investigations were obtained from the unit where delivery took place. RESULTS: A total of 75% of cases seen in a multidisciplinary fetal renal clinic were correctly diagnosed as having a duplex kidney. Prognostic sonographic features are described. Detection of two separate poles or a ureterocele were strongly associated with a correct diagnosis. Accuracy was increased when two or more prognostic features were seen. CONCLUSION: Accurate sonographic diagnosis of duplex kidneys in the fetus is possible in a dedicated multidisciplinary setting. Antenatal counseling and planning of postnatal care for the infant can be made with a high degree of certainty.

Female↗
PubMed2002

Prenatal diagnosis of cloacal anomalies.

OBJECTIVE: To evaluate prenatal diagnosis in facilitating prenatal counselling and planning optimal perinatal care for persistent cloaca, a complex malformation with variable presentation and a difficult reconstructive challenge for the paediatric urologist and surgeon. PATIENTS AND METHODS: The prenatal records of six patients with a suspected prenatal diagnosis of cloacal anomaly, subsequently confirmed on delivery, were reviewed. All had serial prenatal ultrasonograms. Fetal medicine and paediatric surgical specialists were present for the scans and counselled the parents jointly. RESULTS: The diagnosis was made at 19-33 weeks of gestation; all fetuses had a cystic structure arising from the pelvis and bilateral hydronephrosis, with a poorly visualized fetal bladder in most. Other prenatal features included transient fetal ascites, oligohydramnios, ambiguous genitalia and growth retardation. Female karyotype was confirmed in all cases by amniocentesis. Diagnosis was aided in two patients by fetoscopy and in another by magnetic resonance imaging. CONCLUSIONS: Cloacal anomalies can be diagnosed prenatally and should be considered in any female fetus presenting with bilateral hydronephrosis, a poorly visualized bladder and a cystic lesion arising from the pelvis. Prenatal diagnosis allows time for parental counselling and planning of the delivery at a centre equipped with neonatal intensive-care and paediatric surgical facilities.

Cloaca↗
PubMed2001

The association of aneuploidy and mild fetal pyelectasis in an unselected population: the results of a multicenter study.

INTRODUCTION: Mild pyelectasis is a common finding and there is some debate as to its association with aneuploidy. The results of a large, prospective, multicenter study of mild pyelectasis designed to determine the incidence and association with aneuploidy in an unselected population are reported. METHODS: A large multicenter, prospective observational study of unselected fetuses with mild pyelectasis identified between 16 and 26 weeks' gestation in routine ultrasound departments. RESULTS: There were 737 fetuses with mild pyelectasis of which 12 had an abnormal karyotype. Pyelectasis was isolated in three fetuses with Down syndrome, but in one the mother was older (36 years). CONCLUSION: These data confirm the fact that the presence of mild fetal pyelectasis increases the risk for aneuploidy, in particular trisomy 21. However, other risk factors should be considered before embarking on fetal karyotyping, as for most pregnancies complicated by isolated mild pyelectasis, risks of aneuploidy will remain small.

Adult↗
PubMed2001

Non-visualisations of the fetal bladder: aetiology and management.

Failure to detect a normally filled fetal bladder on ultrasound scanning can imply the presence of a serious urogenital abnormality. Detailed scanning may elicit the underlying pathology, but there may be complex anomalies present, the full extent of which often has to await the results of postnatal investigations. Management in a combined paediatric urology:fetal medicine clinic is recommended.

Abnormalities, Multiple↗
PubMed1999

Prenatal finding of a fetus with mosaicism for two balanced de novo chromosome rearrangements.

Karyotyping of a fetus with mild cerebral ventriculomegaly detected with ultrasound at 23 weeks revealed two apparently balanced structural rearrangements in mosaic form. Using conventional cytogenetics and FISH, the chromosomal constitution was identified as 46,XX,t(3;10)(p13;q21.1),inv(6)(p23q12)/46,XX. A 46,XX chromosome constitution was predominantly present in the skin whereas in the fetal blood the cell line with two balanced chromosome rearrangements was selectively retained. To the best of our knowledge this is the first prenatal case of mosaicism for two de novo balanced structural chromosome rearrangements to be reported.

Adult↗
PubMed1999

Smith-Lemli-Opitz syndrome presenting with persisting nuchal oedema and non-immune hydrops.

Smith-Lemli-Opitz syndrome (SLO) is a recognized clinical entity with distinctive anomalies. Recently it has been shown that a specific defect in cholesterol metabolism, 7-dehydroxycholesterol reductase deficiency, causes the multiple abnormalities seen in SLO. There have been two reports of first-trimester nuchal translucency associated with SLO. We report two cases of SLO in the third trimester, one with persisting nuchal oedema and the other presenting with hydrops. These findings may explain a proportion of the perinatal loss associated with this syndrome.

Adult↗
PubMed1999

Prenatal features of Noonan syndrome.

We report six cases of Noonan syndrome which presented prenatally with sonographic abnormalities. These included increased nuchal fluid, short femora, pleural effusions, hydrops, cardiac and renal abnormalities. A review of all cases of Noonan syndrome seen at two regional genetics centres confirms the association with these sonographic abnormalities. These cases demonstrate the diversity of prenatal presentation of Noonan syndrome and highlight the need to consider this diagnosis, particularly when faced with a fetus with a normal karyotype and varying degrees of oedema or hydrops, with a short femur length.

Adult↗
PubMed1999

A new syndrome comprising vertebral anomalies and multicystic kidneys.

We report a dichorionic twin pregnancy in which both fetuses were affected by a similar pattern of multiple abnormalities. The afrocaribbean parents had a history of infertility, and the pregnancy was conceived using in vitro fertilisation with donor sperm. The features seen in the fetuses do not fit any previously described disorder well. We discuss the differential diagnoses and suggest that this may be an autosomal recessive disorder which has not been previously described.

Abortion, Legal↗
PubMed1998

Perinatal outcome and prognostic factors in prenatally diagnosed congenital diaphragmatic hernia.

OBJECTIVE: The purpose of this study was to assess perinatal outcome in cases of prenatally diagnosed congenital diaphragmatic hernia and identify the prognostic value of various prenatal factors. DESIGN: Retrospective review of fetal medicine, obstetric and histopathology records in all 34 cases of congenital diaphragmatic hernia identified prenatally between 1992 and 1996 at a tertiary referral fetal medicine unit. RESULTS: Overall survival was 18%. None of those with bilateral (0/1) or right-sided (0/5) congenital diaphragmatic hernia survived, whereas 21% (6/28) of those with left-sided hernias survived. Prenatal karyotyping was performed in 71% (n = 24) and five chromosomal abnormalities were identified. The pregnancy was terminated in 15 cases (44%). In the 19 continuing pregnancies, the survival rate was 32% (6/19). In those with an isolated congenital diaphragmatic hernia, the survival rate was 38% (5/13), and in those in which the hernia was isolated and left-sided, the survival rate was 56% (5/9). In ongoing pregnancies diagnosed after 24 weeks, the survival rate was 33% (2/6) compared with 31% (4/13) in pregnancies diagnosed at < or = 24 weeks. Of those infants who had surgical repair, six out of seven (86%) survived. CONCLUSIONS: These data clearly demonstrate an improved prognosis in fetuses with an isolated left-sided congenital diaphragmatic hernia.

Adolescent↗
PubMed1998

The significance of choroid plexus cysts in an unselected population: results of a multicenter study.

OBJECTIVES: Choroid plexus cysts are commonly found at the time of a routine second-trimester scan, but there is much debate as to their clinical significance. The aims of this study were to define the incidence of choroid plexus cysts in an unselected population and describe their association with aneuploidy. DESIGN: This was a prospective, observational multicenter study. SUBJECTS: Subjects were all fetuses found to have choroid plexus cysts with a maximum diameter of 3 mm or greater and who were between 14 and 24 weeks' gestation when scanned in the routine ultrasound department at any of the 13 participating hospitals. RESULTS: There were 658 fetuses with choroid plexus cysts in a total of 101,600 births. The overall incidence of aneuploidy was 2.1%, but in fetuses with isolated choroid plexus cysts the incidence of proven aneuploidy was 0.5% (95% confidence interval (CI), 0.1-1.4%). If age is taken into consideration, then the incidence of aneuploidy in fetuses with isolated choroid plexus cysts where the mother is under the age of 36 years was 0.36% (95% CI, 0.04-1.3%), and 2.4% (95% CI, 0.06-12.6%) in older women. CONCLUSIONS: We conclude that the presence of choroid plexus cysts increases the risk for aneuploidy, mainly trisomy 18. In the majority of cases, the final risk will remain small, but will increase as maternal age increases.

Aneuploidy↗
PubMed1998

Antenatal screening for aneuploidy.

There are several methods of antenatal screening for aneuploidy. Most are aimed at the identification of women at increased risk of Down syndrome, the most common abnormal karyotype conferring a significant risk of serious long-term morbidity. Traditional maternal-age-based screening has largely been replaced by programmes based on biochemical markers in maternal serum in the second trimester of pregnancy. However, in recent years there has been a considerable drive towards earlier screening such that there are now a range of potential programmes based on various combinations of maternal age, serum markers and ultrasound findings. There is currently much debate as to which are the most effective methods of screening for aneuploidy.

Aneuploidy↗
PubMed1998

Intra-amniotic inflammation in human gastroschisis: possible aetiology of postnatal bowel dysfunction.

OBJECTIVE: To assess amniotic fluid for evidence of an inflammatory exudate in association with fetal gastroschisis. SETTING: University College Hospital, London and Institute of Child Health, London. SAMPLE: Samples of amniotic fluid in the third trimester from pregnant women with a diagnosis of fetal gastroschisis (n = 10) and from a control group (n = 10) with a normal fetus. METHODS: Cytological analysis of the fluid was performed. Flow cytometry was performed on the amniotic fluid using antibodies for the myeloid cell antigen CD15, the leucocyte beta integrin CD11b/CD18 and CD3, CD19, CD56 and CD25. Tumour necrosis factor alpha and interleukin-8 levels were assayed in the amniotic fluid. RESULTS: An acute inflammatory exudate, composed predominantly of neutrophil polymorphs and mononuclear cells, was found in the amniotic fluid in fetal gastroschisis but not in control cases. When amniotic fluid samples from cases of fetal gastroschisis were stained with CD15, analysis by flow cytometry showed a clear positive population. This CD15 population showed markedly elevated levels of CD11b. No distinct population of CD15 positive cells was seen in amniotic fluid samples examined from the control group. No staining was seen with antibodies to CD3, CD19, CD56 or CD25 in amniotic fluid obtained from either group. There was no significant difference between tumour necrosis factor alpha levels measured in the amniotic fluid of cases of fetal gastroschisis (median 102 pg/mL; range 20-340) and those of the control group (140 pg/mL; range 20-548) (P = 0.1). The levels of interleukin-8 were markedly elevated in the amniotic fluid of cases of fetal gastroschisis (median 6320 pg/mL; range 4732-13,800) compared with the control group (median 1738 pg/mL; range 623 2861;) (P < 0.01). CONCLUSION: Human fetal gastroschisis is associated with an inflammatory exudate in the amniotic fluid which may have implications for postnatal bowel function.

Adult↗