Abnormal renal function as a cause of false-positive biochemical screening for Down's syndrome

Cararach, Vicenç; Casals, Elena; Martínez, Sandra M Sancho; Carmona, Francisco; Aibar, Carlos; Quintó, Llorenç; Alonso, Pedro L.; Fortuny, Albert

doi:10.1016/s0140-6736(97)24044-4

Cited by 30 publications

(13 citation statements)

References 3 publications

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“…We conclude that based upon this case, mild maternal tertiary hyperparathyroidism is not a contraindication to pregnancy, and can be safely observed without intervention. Serum testing for trisomy 21 may be unreliable in the setting of renal dysfunction and other means of quantifying risk such as nuchal translucency should be used 5,6 …”

Section: Discussionmentioning

confidence: 99%

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Pregnancy outcome in a renal transplant recipient with residual mild tertiary hyperparathyroidism

Morton

Dalzell

Isbel

et al. 2004

BJOG

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Case reportA 26 year old woman presented for preconception counselling. Eight years previously, she had received a live related kidney transplant for end-stage renal failure due to reflux nephropathy. Five years later, bilateral native nephrectomies were performed because of severe hypertension, with angiography excluding significant stenosis of the renal transplant artery. Inactive problems were previous disseminated tuberculosis and herpes zoster. Her medications included azathioprine, prednisolone, felodipine, atenolol, hydralazine, ranitidine, sodium bicarbonate and iron. Serum creatinine had ranged between 0.14 and 0.18 mmol/L during the preceding two years, 24-hour urine protein was 0.72 g/day, haemoglobin was 97 g/dL and serum urate was 0.34 mmol/L.There was evidence of mild residual tertiary hyperparathyroidism with ionised calcium 1.4 mmol/L (normal 1.2-1.3 mmol/L), corrected calcium 2.74 mmol/L (2.15 -2.6 mmol/L) and serum parathyroid hormone 14 pmol/L (1 -7 pmol/L). Bone mineral density a year earlier was normal. She was commenced on iron and folate supplements, and methyldopa and labetalol were substituted for atenolol, hydralazine and felodipine with good control of blood pressure on home and office monitoring.No information on outcomes of pregnancy complicated by tertiary hyperparathyroidism could be obtained from a literature search, nor on personal communications with leading authorities in the areas of transplantation, renal disease and pregnancy. Six months later she conceived. At 13 weeks, serum testing estimated a risk of trisomy 21 of 1:16. This was assumed to be a false result related to her renal dysfunction. A nuchal translucency scan estimated the risk at 1:7000. By 17 weeks of gestation, haemoglobin had fallen to 82 g/dL with serum ferritin 222 Ag/L. Darbopoetin 30 Ag a week was commenced with the haemoglobin rising to 118 g/dL over the next eight weeks. At 30 weeks of gestation, her blood pressure rose without other evidence of superimposed pre-eclampsia. Darbopoetin was ceased and nifedipine was added because of intolerance of higher doses of methyldopa. At 32 weeks of gestation, she was admitted to the hospital because of progressive hypertension. Serum creatinine had risen from 0.14 to 0.16 mmol/L in the preceding week (normal for pregnancy 0.04 -0.07 mmol/L), serum urate was 0.4 mmol/L, the degree of proteinuria was stable,and there was loss of variability on cardiotocogram. After betamethasone administration, caesarean section was performed with delivery of a male infant with birthweight 1568 g. The mothers' blood pressure and renal function improved after delivery with excellent blood pressure control on irbesartan alone and serum creatinine of 0.12 mmol/L at the time of discharge six days postpartum. She elected not to breastfeed because of uncertainty regarding the safety of azathioprine. During the course of pregnancy and the postpartum period, her degree of hypercalcemia was stable (Fig. 1). The paediatric team was notified of the risk of neonatal hypocalcemia and tetany prio...

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Section: Discussionmentioning

confidence: 99%

“…Serum testing for trisomy 21 may be unreliable in the setting of renal dysfunction and other means of quantifying risk such as nuchal translucency should be used. 5,6…”

Section: Discussionmentioning

confidence: 99%

Pregnancy outcome in a renal transplant recipient with residual mild tertiary hyperparathyroidism

Morton

Dalzell

Isbel

et al. 2004

BJOG

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“…This has been observed in women following renal transplantation (Cararach et al, 1997). There are suggestions of abnormal renal function tests being associated with a false positive Down's test.…”

Section: Discussionmentioning

confidence: 96%

Abnormal Down's screening test associated with severe hyperemesis gravidarum

Pradhan

Mohajer

2002

Journal of Obstetrics and Gynaecology

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Case reportA 28-year-old caucasian primigravida was rst seen in the antenatal clinic at 17 weeks gestation. She had experienced severe vomiting from early pregnancy resulting in dramatic weight loss, from a weight of 116 kg at 8 weeks' gestation (body mass index (BMI) 39) to 76 kg at 17 weeks (BMI 25). Early in her pregnancy she had been admitted with nausea and vomiting which settled spontaneously. These symptoms recurred soon after, resulting in extreme weakness and weight loss. The diagnosis of severe hyperemesis was made.At her initial visit to the antenatal clinic an ultrasound was performed. This demonstrated a single viable pregnancy corresponding to 17 weeks' gestation. Initial investigations revealed a normal full blood count, hyponatraemia (sodium 128 mmol/l), hypokaemia (potassium 2·6 mmol/l), mildly elevated urea and creatinine of 5·3 m mol/1 and 113 m mol/l respectively. She also had abnormal liver function tests (alkaline phosphatase 450 iu/l, alanine transaminase 450 iu/l, total bilirubin 42 m mol/l, gamma glutaryl transferase 72 iu/l). At the same time the mid-trimester Down's screening test was also abnormal with weight corrected alpha-feto-protein (AFP) of 6·08 multiples of median (MoM), and weight corrected human chorionic gonadotrophin (HCG) of 8·65 MoM. This corresponded with a Down's risk of 1 in 75, as against an age-related risk of 1 in 1132.She was admitted to the antenatal ward for intravenous uids. In view of her biochemical Down's risk, she was counselled for amniocentesis. A preliminary fetal scan did not demonstrate any structural abnormality to account for the high AFP result. Amniocentesis was deferred as it was suspected that the abnormal AFP and HCG could have been related to the disturbances in the biochemical indices caused by her condition. Instead the serum-screening test was repeated following rehydration. Intravenous uid therapy resulted in a good clinical response and gradual resolution of the abnormal biochemical tests. The Down's screening test was repeated 1 week later and once again revealed abnormal results, although the AFP and HCG titres indicated a diminished Down's risk of 1 in 579 (Table I). By this stage the pregnancy was into the 19th week and the hyperemesis had resolved completely. A further Down's screen was performed which showed values within the normal range with AFP of 1·61 MoM and HCG of 1·87 MoM, indicating a Down's risk of 1 in 458. A detailed scan at 20 weeks was normal and no structural abnormality was detected.Two further growth scans at 31 and 36 weeks' gestation revealed normal fetal growth parameters. There were no further complications in pregnancy apart from mild pre-eclampsia at 37 weeks. She went into spontaneous labour at 38 weeks and delivered a 2·9 kg female infant whose perinatal course was uneventful.

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“…Extremely elevated first trimester levels of free β-hCG are also associated with pregnancies at increased risk of paternally derived triploidy (Spencer et al, 2000a). In the second trimester of pregnancy a few studies have reported that elevated levels of maternal serum free β-hCG can also be found in pregnancies with impaired maternal renal function, that is, in patients on renal dialysis (Shulman et al, 1998;Cheng et al, 1999;Chai et al, 2002), with a renal transplant (Cararach et al, 1997;Karidas et al, 2002), or generalised altered renal function (Shenhav et al, 2003;Byrd and Baker, 2006). In general the increase is reported as modest, although in some instances dramatic supra elevated levels have been reported.…”

Section: Introductionmentioning

confidence: 99%

Is maternal renal disease a cause of elevated free β‐hCG in first trimester aneuploidy screening?

Spencer¹,

Enofe²,

Cowans³

et al. 2009

Prenatal Diagnosis

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Abnormal renal function as a cause of false-positive biochemical screening for Down's syndrome

Cited by 30 publications

References 3 publications

Pregnancy outcome in a renal transplant recipient with residual mild tertiary hyperparathyroidism

Pregnancy outcome in a renal transplant recipient with residual mild tertiary hyperparathyroidism

Abnormal Down's screening test associated with severe hyperemesis gravidarum

Is maternal renal disease a cause of elevated free β‐hCG in first trimester aneuploidy screening?

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