Sara Williams highlights two obstetric cases where doctors faced diagnostic challenges during the early stages of pregnancy
Claims that arise out of the failure to detect a genetic abnormality can be amongst the most expensive
Early-stage pregnancy is a diagnostic minefield for clinicians. Ectopic pregnancy is a leading cause of maternal mortality in the first trimester, and claims that arise out of the failure to detect a genetic abnormality can be amongst the most expensive.
Case 1 highlights the difficulty in diagnosing an ectopic pregnancy even with the knowledge that the patient is pregnant. Likened to a black cat in the dark, ectopic pregnancies are notoriously difficult to diagnose. The case also demonstrates that a diagnosis of ectopic pregnancy should be considered whenever one is assessing a female of reproductive years with abdominal symptoms.
Case 2 follows the story of a GP who chose not to screen his patient for Down’s syndrome for fear of it causing her to miscarry her fourth child. The case highlights why patients should be informed of the risks of screening for genetic disorders, enabling them to make informed choices about their pregnancy.
In a young woman in her reproductive years who presents with abdominal pain and amenorrhoea, ectopic pregnancy should be considered
All ectopic pregnancies are silent or asymptomatic in their early phases; the problem lies in that the earlier that you catch them the better the patient’s reproductive prognosis. In a young woman in her reproductive years who presents with abdominal pain and amenorrhoea, ectopic pregnancy should be considered and a pregnancy test carried out.
Diagnosing an ectopic pregnancy can be greatly assisted by a transvaginal ultrasound; particularly if it shows a gestational sac inside a fallopian tube (see Table 1). This will normally visualise an intrauterine sac in and around five weeks gestation (see the Royal College of Obstetricians and Gynaecologists’ (RCOG) Green-top guidance with respect to the management on early pregnancy loss).1
Prominent fertility expert and Professor of Obstetrics and Gynecology at the University of South Wales Dr William Ledger advises: “The risk factors for ectopic pregnancy are well known and features such as a history of pelvic inflammatory disease, tubal surgery (including reversal of sterilisation), in vitro fertilisation, known pelvic adhesions, previous ectopic pregnancy, etc, should be sought, but such features will only be identified in about half of all cases. Equally, symptoms may be ‘barn door’, with vaginal bleeding, lateralising pain with shoulder tip pain, and a positive pregnancy test, or they may be subtle or practically non-existent.
“Early pregnancy ultrasound is commonly performed for ‘soft’ indications where there is no medical need for an early scan, but the woman wants to see the fetal activity and be reassured that all is well. An increasing number of ectopic pregnancies are being diagnosed opportunistically in this way. Early diagnosis may allow for use of medical or conservative tubal surgery, with the possibility of improving the chances of saving the fallopian tube.”
If a child is born with a severe congenital disability the child can make a claim for wrongful life, while the parents can sue for wrongful birth.3 The key issue in these cases is whether a doctor should bear the cost of raising and maintaining a child where birth was a consequence of medical negligence, eg, where the parents were not warned that their child may be born with a disability and, if they had been warned, they may have terminated the pregnancy.
A high index of suspicion
Mainstays of practising early pregnancy medicine require a high index of suspicion: people can and do die from ectopic pregnancy and thousands of children are born with undiagnosed genetic abnormalities. Comprehensive examination and investigation in women of child-bearing age with abdominal or gynaecological problems is essential. Pregnancy should always be considered in the differential diagnosis as the consequences of an undiagnosed pregnancy can be catastrophic.
Table 1: Diagnosis of asymptomatic tubal ectopic pregnancy, Canadian Society of Obstetrics and Gynaecology2
|Possible ectopic pregnancy
- Serum beta-hCG level > 1500 mlU/ml
- Absence of intrauterine pregnancy on transvaginal ultrasound
|Probable ectopic pregnancy
- Serum beta-hCG level > 1500 mlU/ml
- Absence of intrauterine pregnancy on transvaginal ultrasound
- Adnexal mass on transvaginal ultrasound
|Diagnosis of ectopic pregnancy
||- Gestational sac inside fallopian tube on transvaginal ultrasound
Case 1: Black cat in the dark
A review of the earlier ultrasound photos that Dr X was given clearly showed the absence of an intrauterine pregnancy that was not investigated
Ms E, a 25-year-old clinical psychologist, became pregnant unexpectedly after her means of contraception failed. She sought a medical termination at a private clinic promptly at six weeks gestation. While at the clinic, Ms E was reported as showing that she was experiencing some abdominal pain and spotting; an ultrasound was performed.
Dr X examined the scan; although she found it difficult to read, she was satisfied that it was normal. After being appropriately consented for the procedure, Ms E was given medication to induce the termination over a course of two days. She was also given antibiotics and an appointment was made two weeks later. Ms E never made it to the repeat appointment, as she was admitted to the local emergency department unit suffering from back and abdominal pain, and pain at the tip of her right shoulder.
A scan revealed an ectopic pregnancy in her left fallopian tube and she was taken into theatre. The condition of the tube was such that the only option was salpingectomy. This had catastrophic consequences for Ms E, as the right tube had been damaged due to a ruptured appendix during her childhood. Ms E, now unable to conceive naturally, issued a claim against the clinic, alleging that there were signs that the pregnancy was not developing in utero.
A review of the earlier ultrasound photos that Dr X was given clearly showed the absence of an intrauterine pregnancy that was not investigated. The clinic admitted breach of duty, which took into account Ms E’s reduced fertility, and the claim was settled for a moderate sum.
- According to the RCOG, one in 90 pregnancies is an ectopic pregnancy.
- Ectopic pregnancy is likened to trying to spot a black cat in the dark: an ectopic pregnancy that has not ruptured can have silent or no symptoms; if it has ruptured it may produce shoulder tip pain, abdominal pain and shock.
- Where a patient is known to be in the early stages of pregnancy, or is of child-bearing age, and describes abdominal or pelvic pain, ectopic pregnancy must be considered high on the list of possible diagnoses.
- RCOG, The Management of Tubal Pregnancy (reviewed 2010)
- RCOG, Early Pregnancy Loss, Management (Green Top 25, 2006)
Case 2: Mother knows best
Mrs M had been with her GP surgery for many years and they had supported her through three miscarriages and an ectopic pregnancy. Mrs M had given up on having her own children and had adopted a child. She presented at the surgery after a period of amenorrhea and was delighted, if somewhat apprehensive, to be diagnosed as being pregnant in her early 30s.
Dr P, the GP partner who saw her, was aware of her apprehension and felt that the most important thing to Mrs M was to have her own child. Given her previous history and the slight but real risk of losing a pregnancy following an amniocentesis, he decided against counselling her on the national guidelines regarding screening for Down’s syndrome.
She had a torrid obstetric history despite only being in her early 30s and, given her age, he felt the chances of her having a baby with Down’s was low or unlikely, and that she would be unlikely to take the chance of losing the pregnancy if an amniocentesis was suggested.
A few months later, Mrs M gave birth to a baby with Down’s syndrome. She made a claim against the hospital alleging negligent actions and poor genetic counselling. It was held that Dr P had failed in his duty of care to Mrs M by failing to initiate the screening of Mrs M. Mrs M was awarded a substantial sum by the NHSLA to pay for the increased costs of bringing up a child with a disability.
- Patients should make informed decisions about whether to be screened or otherwise. Some patients may decide against having diagnostic testing or screening. This discussion and the reasons given should be documented.
- Screening identifies some women where the risk of congenital disease is sufficiently high to justify invasive tests that can carry a risk of miscarriage.
- Blood tests are screening tools; they provide an indication of the risk of an abnormality whereas an amniocentesis is a diagnostic tool and will be able to tell the parents whether or not they have, eg, a Down’s syndrome child.
- All women should be offered screening for Down’s as part of a national screening programme. It should be stressed that it does not give a definite diagnosis. According to NICE:
- The “combined test” (nuchal translucency, beta hCG and PAPP-A) should be offered to women between 11 weeks 0 days and 13 weeks 6 days.
- For women who book later, the most clinically and cost-effective serum screening test (triple or quadruple test) should be offered between 15 weeks 0 days and 20 weeks 0 days.
- When it is not possible to measure nuchal translucency (because of fetal position or maternal raised BMI), women should be offered serum screening (triple or quadruple test) between 15 weeks 0 days and 20 weeks 0 days.4
- DH, UK National Screening Programme, Fetal Anomaly Screening Programme (2010)
- NICE, Antenatal care (2008)
- Contains extensive web links and advice
- RCOG, RCM, Multiple Pregnancy (2011)
- RCOG, Non-invasive Prenatal Diagnosis Using Cell-free DNA in Maternal Blood (SAC Opinion Paper 15, 2009)