Transverse limb defect: A case report

Thangamani1, Tamilselvi2, Angel Roselin. S3

1Nursing Incharge, Kauvery Hospital, Thirunelveli, Tamil Nadu

2Senior Staff Nurse, Kauvery Hospital, Kauvery Hospital, Thirunelveli, Tamil Nadu

3DNS Kauvery Hospital, Kauvery Hospital, Thirunelveli, Tamil Nadu

Abstract

Terminal transverse limb defects reflect failure of early limb development. Transverse limb defects are a relatively very rare issue affecting 3.5-6.9 / 1000 births globally with a very low prenatal detection rate (55%). The possible cause might be genetic condition inherited from parental or amniotic band syndrome. The detection rate can be improved with the use of careful anatomical surveys during anomaly scan. In the case report, transverse limb defect was detected in the secondary trimester.

Introduction

The incidence of the limb detection varies from 3.5 – 6.9 per 1000 births. The prenatal detection rate is approximately 55%. However, this varies considerably depending on the application of imaging guidelines, and on the population studied. The defects range from complete absence of limbs (Amelia) to partial absence (meromelia). The commonest limb reduction defect is a terminal transverse defect, which is usually unilateral, isolated and sporadic in occurrence. This is defined as the partial or complete absence of one or more fetal limbs beyond a certain post, leaving a stump, and is usually categorized according to the last remaining bone segment. This case report describes an isolated transverse limb detected in the second trimester anomaly (target scan)

Fig (1): Reference picture

Case Presentation

31 years, primigravida at 23 weeks +1day referred to our hospital for anomaly (target) scan and MTP if required. The first trimester scan done at 8 – 11 weeks showed a single live intrauterine gestation with a CRL of 48mm corresponding to the period of amenorrhea. The NT was 1.8mm. Anomaly scan done on 19.07.2025 was performed and was consistent with biometry of 21 to 22 weeks. The placenta, liquor and fetal activity were normal.

On detailed ultrasound target imaging, the right humerus was normal. On anomaly scan imaging, showing the left upper limb- absence of fingers/hand and half of the fetal left forearm (radius and ulna seen only for half of the length in forearm for a length and the elbow was imaged. Distal to the elbow, the radius and ulnar were seen for a length of 1 to 1.5mm and were absent beyond that length. (Fig: 3 attached). The right-hand movements were normal, and hand opening closing was also seen. The lower limbs were structurally normal in the proximal, mid and distal segments and movements were seen. The other fetal structure and fetal ECHO were normal.

Fig 2 (A) & (B): Fetal left upper limb- Absence of finger / hand and half of the forearm (radius and ulna seen only for half of the length in forearm)

The mother along with her partner and family members were counselled in detail. The possibilities of prosthesis for the left limb and that the other limb function were normal if required on the need of the plastic surgeon and the process of the condition can be manageable. Suggested for NIPT/ amniocentesis to rule out underlying cause. No other obvious structural anomalies that could be detected by ultra-sonogram for this period of gestation are seen in present scan.

However, the couple decided that they could not raise a child with physical disability. After the second counseling, termination of pregnancy was opted for.

Obstetrical score- G1P0A0

Marital history: 5 years

Menstrual history: LMP: 10.02.2025

Conception- OI conception was on treatment (Outside hospital)

Past history: The mother had a history of Road traffic accident with head injury 2 months before and was on treatment. CT scan revealed ICH was started on safe pregnancy medicine and discharged.

USG Report

Single live intra uterine fetus corresponding to a gestational age of 21 to 22 weeks duration.

Fetal left upper limb- Absence of finger / hand and half of the forearm (radius and ulna seen only for half of the length in forearm)

Terminal transverse limb defects from half of the fetal left forearm.

No other obvious structural anomalies that could be detected by ultra-sonogram for this period of gestation are seen in present status.

Doppler

Right uterine artery PI: 0.6, RI: 0.4- Normal

Left uterine artery PI: 1.0 RI:0.6- Normal.

Course of the treatment

The mother was induced with the intracervical Foley catheter and waited for the patient to develop the uterine contraction. The patient developed mild contraction and started on Tab. Mifepristone 200mg stat given. Foley’s expelled on its own patient started with fluids on 24.07.2025 at 12.42am the process was good with uterine contraction and full cervical dilation achieved within half an hour. The mother expelled a female baby with absence of left forearm, placenta and its membrane.

Observation done over 1 hour for the PV bleeding. Patient condition improved voided the urine. Minimal bleeding present. Repeat PV USG done to make sure the uterus is clear. Mother was encouraged to take plenty of fluids and nutritious diet given. The couple was counseled that the recurrence rate of transverse limb defects is very low due to its sporadic occurrence. Discharged after 6 hours of observation on 24.07.2025. Advised for the contra-conceptive and plan for the pregnancy when mother condition improved. Pre-pregnancy folic acid and first trimester scan emphasized.

Fig (4): left upper limb- absence of fingers/hand and half of the fetal left forearm (radius and ulna seen only for half of the length in forearm for length and the elbow.

Discussion

Most cases of limb defects are believed to be secondary to vascular insult occuring very early in embryonic life or amnion rupture sequence. Amnion rupture sequence causes formation of amnitic bands which can cause many different scenarios. A study of 1010 pre-viable fetuses (9-20 weeks developmental age) was performed to determine the result of amnion rupture sequence. 18 fetuses were affected with the incidence of 1:56. Eleven fetuses had limb constrictions and amputation only: 7 fetuses also had non-limb invovement, suchnas encephalocele, unusual facial clefts and abodminal defects. In 6 pregnancies, constrictions of the umbilical cord by amniotic hands were the cause of fetal untrauterine death.

Transerve limb defects can also be caused by ingection of teratogens such as misporotocol which may be used for orst trimester termiantion of preganancy. They can also be caused by maternal ingestion of vasopastic drugs and maternal ingestion of maternal diabetes, smoking and ingestion of alcohol. Amniotic band syndrome in the second trimester has been reported following diagnostic amniocentesis but its spontaneous occurrence is rare.

Fig: 6 Amnotic band syndrome(reference picture)

This case is reported to emphasize the imprtance of first trimester scan which should be carefully performed according to standard guidelines. The guidelines suggest demonstating four limbs with three segements and as an option recommend demonstration of normal orientation of hands and feet.

The practice of demonstrating both the humeri and then both bones of the forearms, followed by the coronal section of the fetal hand demonstrating the open fingers, helps greatly in improving detection rates not only of larger transverse limb reduction defects but also of reduction of fingers, ectrodactyly and polydactyly. First trimester screening for anomalies is now standard of care and performed with trans-abdominal or trans-vaginal route to obtain the necessary images.4,5 Early detection provides the patient with a choice of termination of pregnancy at an earlier gestational age, reducing the physical morbidity and to some degree the emotional morbidity associated with the procedure. Although first trimester scanning cannot be relied on exclusively as a targeted scan, it does have the potential to detect many anomalies early thus benefiting the patient.

Funding: No funding sources

Conflict of interest: None declared

Ethical approval: Not require

References

  • Genest DR, Di Salvo D, Rosenblatt MJ, Holmes LB. Terminal transverse limb defects with tethering and omphalocele in a 17-week fetus following first trimester misoprostol exposure. Clin Dysmorphol. 1999;8(1):53-8.
  • Saeed F, Paramasivam G, Wiechec M, Kumar S. Incidence and outcome of antenatally diagnosed isolated transverse limb defects. Ultrasound Obstet Gynecol. 2009;34(Suppl 1):177-284.
  • Salomon LJ, Alfirevic Z, Bilardo CM, Chalouhi GE, Ghi T, Kagan KO, et al. ISUOG Practice Guidelines: performance of first-trimester fetal ultrasound scan. Ultrasound Obstet Gynecol. 2013; 41:102-13.
  • Cullen MT, Green J, Whetham J, Salfia C, Gabrielli S, Hobbins JC. Transvaginal ultrasonographic detection of congenital anomalies in the first trimester. Am J Obstet Gynecol. 1990; 163:466-76.
  • Achiron R, Tadmor O. Screening for fetal anomalies during the first trimester of pregnancy: transvaginal versus transabdominal sonography. Ultrasound Obstet Gynecol. 1991; 1:186-91.
  • Vidyashree Ganesh Poojari,Muralidhar V.Pai, Akhila, Nambiar: “Transverse limb defect: a case report “Department of obstetrics & Gynecology, KMC manipal, Manipal university, Karnataka, India.

Nightingale Journals

Kauvery Hospital
Find Doctor
Book Appointment